The document discusses monitoring Sakai usage at the University of Florida after it was adopted to replace WebCT in 2010. It describes how data on courses, sections, and instructors in Sakai was retrieved from databases and compared to registrar data to calculate usage percentages by college. Statistical analysis found most colleges had significantly higher Sakai usage percentages in 2011 compared to 2010 and between semesters from 2010 to 2011, indicating the marketing and training efforts increased adoption over time. The results were used to identify colleges still below 50% usage to target for additional support.
Jose silva lugo - advantages of monitoring sakai usagejsilvalugo
The document discusses monitoring Sakai usage at the University of Florida after it was adopted to replace WebCT in 2010. It analyzes data from the registrar and Sakai databases to calculate percentages of courses, sections, and instructors using Sakai each semester and by college. Statistical tests found most colleges had significantly higher Sakai usage from 2010 to 2011. Most semester-to-semester comparisons also showed significant increases, though Summer 2011 dipped slightly. The analysis aimed to identify areas needing more training or promotion to boost Sakai adoption.
This document discusses the University of Florida's process of selecting and implementing the Sakai learning management system. It analyzed usage data from Sakai and the university's registrar to calculate the percentage of courses, sections, and instructors using Sakai across colleges and semesters. Statistical tests found significant increases in Sakai usage from 2010 to 2011 for most colleges. The analysis aims to identify colleges with lower usage to target marketing efforts and increase adoption of the new LMS.
1. New international student enrollment in the U.S. increased 15.8% in 2008/09 to over 200,000 students.
2. Total international student enrollment in the U.S. reached a record high of over 671,000 in 2008/09, a 7.7% increase from the previous year.
3. The top places of origin for international students were India, China, South Korea, Canada, and Japan, comprising over 50% of all international students.
1. This is the Ibaraki University Environmental Report for 2008.
2. It provides data on the university's energy and resource consumption, as well as emissions for 2007. Total energy usage was 151,074 GJ while CO2 emissions were 97,889 tons.
3. The report also describes environmental initiatives and projects undertaken in 2007-2008, including expanding recycling activities, reducing paper usage, and research on climate change adaptation through the Institute for Global Change Adaptation Science.
The document provides an overview of the state of education in South Africa and challenges facing the country, with some proposed solutions. It discusses low performance on international tests, high dropout rates, and disparities between school types. Potential causes mentioned include lack of teacher development, dysfunctional school management, and untruths such as overemphasis on resources over quality. The presentation proposes steps to improve education quality, including increasing teacher professionalism, establishing student-teacher connections, and implementing student accountability measures. It aims to raise awareness of educational issues and provide examples of school turnarounds.
The March of Dimes funds research on prematurity and birth defects through various programs:
1) It operates 5 Prematurity Research Centers that investigate the biological causes of preterm birth through collaborative research.
2) It provides grants for investigator-initiated research focused on developmental biology, pregnancy/labor, birth defects, and factors affecting pregnancy outcomes.
3) The organization also supports conferences, fellowships, and global initiatives to reduce the burden of conditions like hemoglobin disorders worldwide.
Haemoglobinopathies in Low- and Middle-Income Countries: Nepal - Tilak ShrestaHuman Variome Project
1) The document describes a proposal for an NHLBI grant application to implement a plan for addressing haemoglobinopathies in Nepal through genomic diagnosis.
2) The proposal would conduct a needs assessment in Nepal to develop a cost-effective, sustainable plan to manage thalassemia, sickle cell disease, and G6PD using genomic techniques over 20-25 years.
3) It would establish partnerships between institutions in Nepal and other low and middle income countries to build capacity for genomic diagnosis and share best practices.
The document provides guidance on writing promotions for BBC Radio. It outlines that BBC radio promotions require a high quality tone that matches each station's style and targets the intended audience. Writers are advised to keep promotions concise with a single clear call to action. Promotions should engage listeners through stories, examples and evocative language rather than long lists of facts. The document also contains examples of appropriate and inappropriate tones for different BBC radio stations.
Jose silva lugo - advantages of monitoring sakai usagejsilvalugo
The document discusses monitoring Sakai usage at the University of Florida after it was adopted to replace WebCT in 2010. It analyzes data from the registrar and Sakai databases to calculate percentages of courses, sections, and instructors using Sakai each semester and by college. Statistical tests found most colleges had significantly higher Sakai usage from 2010 to 2011. Most semester-to-semester comparisons also showed significant increases, though Summer 2011 dipped slightly. The analysis aimed to identify areas needing more training or promotion to boost Sakai adoption.
This document discusses the University of Florida's process of selecting and implementing the Sakai learning management system. It analyzed usage data from Sakai and the university's registrar to calculate the percentage of courses, sections, and instructors using Sakai across colleges and semesters. Statistical tests found significant increases in Sakai usage from 2010 to 2011 for most colleges. The analysis aims to identify colleges with lower usage to target marketing efforts and increase adoption of the new LMS.
1. New international student enrollment in the U.S. increased 15.8% in 2008/09 to over 200,000 students.
2. Total international student enrollment in the U.S. reached a record high of over 671,000 in 2008/09, a 7.7% increase from the previous year.
3. The top places of origin for international students were India, China, South Korea, Canada, and Japan, comprising over 50% of all international students.
1. This is the Ibaraki University Environmental Report for 2008.
2. It provides data on the university's energy and resource consumption, as well as emissions for 2007. Total energy usage was 151,074 GJ while CO2 emissions were 97,889 tons.
3. The report also describes environmental initiatives and projects undertaken in 2007-2008, including expanding recycling activities, reducing paper usage, and research on climate change adaptation through the Institute for Global Change Adaptation Science.
The document provides an overview of the state of education in South Africa and challenges facing the country, with some proposed solutions. It discusses low performance on international tests, high dropout rates, and disparities between school types. Potential causes mentioned include lack of teacher development, dysfunctional school management, and untruths such as overemphasis on resources over quality. The presentation proposes steps to improve education quality, including increasing teacher professionalism, establishing student-teacher connections, and implementing student accountability measures. It aims to raise awareness of educational issues and provide examples of school turnarounds.
The March of Dimes funds research on prematurity and birth defects through various programs:
1) It operates 5 Prematurity Research Centers that investigate the biological causes of preterm birth through collaborative research.
2) It provides grants for investigator-initiated research focused on developmental biology, pregnancy/labor, birth defects, and factors affecting pregnancy outcomes.
3) The organization also supports conferences, fellowships, and global initiatives to reduce the burden of conditions like hemoglobin disorders worldwide.
Haemoglobinopathies in Low- and Middle-Income Countries: Nepal - Tilak ShrestaHuman Variome Project
1) The document describes a proposal for an NHLBI grant application to implement a plan for addressing haemoglobinopathies in Nepal through genomic diagnosis.
2) The proposal would conduct a needs assessment in Nepal to develop a cost-effective, sustainable plan to manage thalassemia, sickle cell disease, and G6PD using genomic techniques over 20-25 years.
3) It would establish partnerships between institutions in Nepal and other low and middle income countries to build capacity for genomic diagnosis and share best practices.
The document provides guidance on writing promotions for BBC Radio. It outlines that BBC radio promotions require a high quality tone that matches each station's style and targets the intended audience. Writers are advised to keep promotions concise with a single clear call to action. Promotions should engage listeners through stories, examples and evocative language rather than long lists of facts. The document also contains examples of appropriate and inappropriate tones for different BBC radio stations.
Global Globin 2020 Challenge: Developing capacity for gene variant data shari...Human Variome Project
The document discusses the Global Globin 2020 Challenge which aims to increase genetic data sharing related to hemoglobinopathies from low and middle-income countries. The three goals are to grow quality genetic database inputs from these countries, harmonize data sharing between countries according to ethical standards, and ensure sustainable medium-term data storage, curation and sharing by strengthening international professional networks. It provides background on the high prevalence of hemoglobin disorders like sickle cell disease in Africa and challenges in diagnosis and treatment. The challenge will work to raise awareness, integrate new technologies into healthcare, and achieve cross-country cooperation and knowledge sharing to address hemoglobinopathies and genomic medicine more broadly.
The document summarizes information about the Canadian Open Genetics Repository (COGR), which serves as the HVP Country Node for Canada. It provides details on clinical genetics resources in Canada, the structure and funding of COGR, its data sharing policies and technical capabilities. COGR's data holdings have doubled in the past year and it plans to strengthen genomic data sharing by publishing findings and seeking additional funding. The primary challenges are obtaining funding and data from all sites.
ETS Careers is a company that helps prior military members find civilian careers. Their mission is to support veterans and showcase their value to employers. They offer an online profile and job search to veterans for free, and charge companies to post jobs and access veteran resumes. The document discusses the founder and CEO, strengths like their military network, weaknesses like lack of funds, opportunities in military-friendly areas, threats from competitors, sales projections of $95k first year, and a request for $15-20k investment.
Phenotype-based Matching Using PhenoDB Terms in BHCMG PhenoDB to Maximize Who...Human Variome Project
Matchmaking initiatives like GeneMatcher, have demonstrated the utility of gene-based matching for identification of unrelated individuals with similar phenotypes and pathogenic variants in the same gene. Phenotype-based matching (PBM) has been attempted less widely because of challenges such as phenotypic variability, relative paucity of phenotypic details in clinical genomic databases, and the use of variable phenotypic terminology by clinicians and researchers. As part of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG), users submit their cases to PhenoDB using PhenoDB phenotypic terms, which enables the use of semantic-similarity based methodologies to quantify phenotypic overlap within the database. To test PBM, we initially compared the following methodologies: Jacquard, Distance, Resnick (OMIM-based and PhenoDB-based corpora), and Wang. The Resnick-PhenoDB algorithm uses the phenotypic features that describe 4,114 cases in PhenoDB as the corpus for calculation of information content instead of the OMIM clinical synopses or HPO annotations. To validate the matching algorithms, we utilized a simulated set of 55 cases phenotyped by using the OMIM clinical synopsis of four well known phenotypes (OMIM 136140, 615960, 117650, 615273), and demonstrated that for 3 of the 4 disorders, all cases known to have the same disorder had the highest phenotypic similarity scores. We then tested the matching algorithms on phenotypic data from 4,114 unrelated probands in the BHCMG PhenoDB. We chose 3 phenotypes for which multiple unrelated probands are present in the database: Gomez-Lopez-Hernandez Syndrome (N=5, GLHS, OMIM 601853), Hemifacial Microsomia (N=12, HFM, OMIM 164210), and Lateral Meningocele Syndrome (N=5, LMNS, OMIM 130720). The average number of features entered per phenotype was 7.3 for GLHS, 8.14 for HFM and 0.8 for LMNS. We selected one case at random for each condition as the query case and determined the proportion of expected matching cases present in the top 1% and 5% among the 4,114 cases. Resnick-PhenoDB algorithm found that for GLHS, 3 of the 5 expected matching cases were identified among the top 1% and 4 of 5 in the top 5%. For HFM, 2 of the 12 expected matching cases were identified among the top 1% and 4 of 12 in the top 5%. For LMNS, 0 out of the 5 expected matching cases were identified among the top 1% and 0 of 5 in the top 5%. Using a simulated set of cases, we showed that all 5 algorithms performed similarly and that Resnick PhenoDB-based algorithm is able to identify and prioritize the expected matching cases among the total number of cases. Applying the Resnick PhenoDB-based algorithm to the real-world BHCMG PhenoDB showed the importance of detailed case descriptions if PBM is desired. Efforts to improve the availability and consistency of phenotypic annotations, as well as enhanced similarity calculation methodologies, will improve the fidelity and utility of PBM.
Legal and regulatory challenges to data sharing for clinical genetics and ge...Human Variome Project
There are many factors that impede genomic variant sharing in the UK, despite it becoming a necessary part of clinical care. These include the lack of a designated infrastructure or mechanism aggravated by the complexity of laws that apply, and fragmented and variable advice from local ‘Caldicott guardians’ who guide NHS trusts on their responsibilities concerning data protection and confidentiality. Since the legitimacy of data sharing in the UK is framed in terms of ‘personal data’ being shared for ‘direct care’ (subject to legal exceptions), the blurred boundaries between clinical care and research, and the spectrum of identifiability of data also lead to differing interpretations resulting in inconsistent practices.
In a multidisciplinary collaboration, the PHG Foundation and the UK’s Association for Clinical Genetic Science co-hosted a workshop to examine the clinical necessity for sharing variant data and associated phenotypic information, the technical feasibility and the legal and regulatory impediments to such sharing. Delegates included clinicians, laboratory scientists, and key policy makers, including the National Data Guardian for Health and Care and representatives from the 100,000 Genomes Project, a pioneering research project which promises to build a legacy for future genomics services in the UK. The key finding from our work was that current arrangements for sharing genomic variants within the NHS are unsatisfactory and inconsistent practices are compromising safety and quality. Our workshop report [1] highlights the urgent need for (i) national agreement to optimise sharing within the NHS and develop consensus on the legitimacy of data sharing, (ii) standardised operational processes, including a designated sustainable database or mechanism for sharing, and (iii) strong leadership by the multiple relevant health organisations to demonstrate the benefits and risks associated with sharing and not sharing data.
Since publication of the workshop report, the NHS Consortium (operating within the DECIPHER database) has reported a 120% increase in the number of cases shared, the 100,000 Genomes Project and associated data embassy have got underway and the EU Data Protection Regulation has been finalised. However research highlights continuing public reservations about some aspects of data sharing including commercial access and misgivings around secondary uses of data. Publication of the National Data Guardian’s long-awaited review of consent and security provisions to provide guidance on a new consent and opt-out model for sharing patient information in the NHS, has been delayed pending the results of the EU referendum being known. Against this backdrop, the imperative to develop robust, proportionate policies for genomic data sharing becomes increasingly acute.
Funding from the PHG Foundation and the Association for Clinical Genetic Science.
The ClinGen Sequence Variant Interpretation Working Group: Refining Criteria ...Human Variome Project
The ClinGen Sequence Variant Interpretation Working Group aims to refine criteria for classifying genetic variants by standardizing how different types of evidence are integrated. In the short term, it will refine and modify current American College of Medical Genetics guidelines. It will work with disease-specific groups to evaluate criteria like population frequency thresholds and computational methods. The long term goal is to develop a quantitative Bayesian framework to classify variants. The working group will analyze ClinVar to identify disease genes with many reported variants to help evaluate criteria.
The BRCA Challenge & Exchange: Progress and Plans - Gunnar RätschHuman Variome Project
The BRCA Challenge aims to improve care for patients at risk of breast and ovarian cancer through global data sharing and collaboration on BRCA1 and BRCA2 variants. It plans to:
1) Share BRCA variants publicly via the BRCA Exchange portal, displaying a curated list of variants interpreted through expert consensus.
2) Address challenges of global data sharing through its organization structure and subcommittees.
3) Create a model for data sharing and analysis for all disease genes.
1. Genetic heterogeneity of mitochondrial disorders is high, with mutations in over 250 nuclear genes and 13 mitochondrial genes known to cause primary mitochondrial disorders. 2. Complex I deficiency is a common presentation and has high genetic and clinical heterogeneity, with mutations in over 30 nuclear genes associated. 3. Mitochondrial translation deficiency is another common presentation, with mutations in over 30 genes encoding mitochondrial aminoacyl-tRNA synthetases and other translation factors associated.
The public relations plan aims to launch the Recruit Combine's National Network Affiliate Program. The mission is to launch the program and the end state is to sell network affiliate programs. The strategy involves special events, press releases, media outreach, and ongoing communications like newsletters and reports to promote the program through media and community engagement. Progress will be evaluated and the plan reimplemented as needed.
This document summarizes partnerships and networks in Africa focused on sickle cell disease (SCD). It describes REDAC, a network established in 2010 with the goal of reducing suffering from SCD in central Africa. REDAC has members from 12 countries and provides various services for SCD including newborn screening and diagnostic testing. The document discusses limitations in SCD care in member countries like lack of treatment access and trained healthcare workers. It outlines REDAC's involvement in multi-country research studies and partnerships with other SCD groups to strengthen care, advocacy, and training regionally and through North-South collaborations.
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa LandrumHuman Variome Project
The rate of variant discovery continues to surpass the rate of clinicalgrade interpretation. This is a challenge for precision medicine, because fast, reliable access to variant interpretations is necessary to provide well-informed and timely interpretations of test results to patients. ClinVar is a public repository for interpretations of clinical significance and functional effects of variants in any gene and for any disease. Interpretations are submitted by many sources, including clinical testing laboratories, research laboratories, locus-specific databases, expert panels, practice guidelines, as well as OMIM® and GeneReviews™. Collecting variant interpretations in ClinVar depends on integrating data from these different sources, which has several benefits. First, data integration requires standardizing the data from each source. This improves the quality of the data in ClinVar as well as in each of the individual datasets. ClinVar staff validate HGVS expressions as a routine part of ClinVar submission processing. Submitters are encouraged to use standard terms in MedGen for diseases and phenotypes. Standard terms for clinical significance are used in ClinVar when available; for example, ClinVar uses the terms recommended by ACMG to classify variants for Mendelian diseases. Secondly, ClinVar aggregates all data for a variant defined by its genomic location. Therefore, HGVS descriptions on different transcripts or on different genomic sequences can be recognized as the same variant. Thirdly, integrating data from multiple submitters allows the evidence from all sources to be pooled together. This larger collection of evidence aids the re-evaluation of variant classifications, and is especially valuable for rare variants and novel gene-disease relationships. Fourthly, data integration means that variant interpretations from different sources can be viewed together and compared. Thus a ClinVar user has access to interpretations outside any internal system and knows when there is consensus in the interpretation or not. Submitting laboratories use reports of conflicting interpretations in ClinVar to prioritize variants that they should re-evaluate. ClinVar receives data from many data providers, and therefore provides clear attribution to each contributing group, including links to records in LSDBs. Each source may update their submission to ClinVar at any time. For example, a record may be updated when a variant is re-classified or when additional evidence is available to support the interpretation. Submitters may consider providing regular updates to ClinVar to prevent their interpretations from becoming out of date. Submissions to ClinVar describe variants that range in complexity from simple alleles with explicit sequence locations through copy number changes and cytogenetic rearrangements with fuzzy boundaries.
Instruction Designe for e-Content Development;UK-India ProspectiveMazhar Laliwala
The document discusses designing effective learner-centric e-content for open and distance learning from an Indian perspective. It addresses creating contextualized and learner-centered online content that engages learners and fosters collaboration, reflection, and links to real-world job skills. Effective learning design integrates individual self-paced learning into the overall program. The status and models of open universities in India are also examined.
This document provides guidelines for assessing the coursework component of the Information and Communication Technology subject for the Sijil Pelajaran Malaysia (SPM) examination. It outlines 13 constructs and 15 aspects to be assessed across 6 learning areas related to ICT skills and knowledge. Assessment is to be conducted by teachers in an authentic manner throughout the 2-year teaching period using various instruments such as demonstrations, presentations, assignments, and projects. Scores are awarded according to detailed criteria for each aspect, and must be recorded on specified forms. The coursework component contributes 30% of the overall ICT examination marks.
This presentation is talk about how to use the databases that constitute the electronic sources of knowledge in medicine and the health sciences, demonstrating and discussing at the same time the features of the various products and their users.
Perjumpaan waris upsr 2012 kali ke 2 newLagoon Biru
The document provides a report on the achievements of candidates from Sekolah Kebangsaan Kerayong Jaya in the 2012 UPSR (Ujian Pencapaian Sekolah Rendah) examination. It lists the top achieving students, including their subject scores, grades and classification in UPSR 2011 and UPSR 2012 trial examinations. The top students achieved mostly A's and B's, with some scoring a few C grades. The report aims to highlight the school's high academic standards and success in the UPSR 2012 national primary school leaving examination.
The document describes a mini project report for an Online Examination System submitted by Vikram Singh Slathia and Rajesh Sahu under the supervision of Mehul Mahrishi. It includes a candidate declaration signed by the students, a certificate signed by the supervisor, and acknowledgements. The abstract provides a brief overview of the Online Examination System as a web-based application for technical evaluation that replaces paperwork and reduces faculty workload.
Presented during the European Forum on Trades and Training in the Field of Composites Materials, organised by the project +Composites on the 7th of February, 2013 in St Quentin, France.
To learn more: http://www.pluscomposites.eu
Author: Stefan Brück, INM Leibniz-Institute for New Materials
This document summarizes a study that investigated the impact of demographic differences on student experience with an online learning environment (OLE) at Deakin University. The study collected survey responses from over 2,500 students regarding importance and satisfaction ratings of various OLE elements. Key findings included:
1) Female students generally gave higher ratings than males, particularly for elements related to online interaction and community.
2) Postgraduate students generally gave lower satisfaction ratings than undergraduates, though differences were small.
3) Analyses were also conducted to compare ratings based on mode of study (on-campus vs off-campus) with few significant differences found.
The study provides insights into how demographic factors may
This document discusses the presentation, analysis, and interpretation of data. It describes three ways to present data: through textual, tabular, and graphical presentation. Textual presentation involves organizing data into categories using words. Tabular presentation displays data in a table format. Graphical presentation uses visuals like charts and graphs. The document also discusses analyzing data through qualitative and quantitative methods, and classifying data based on characteristics. Finally, it outlines three levels of interpreting data: inference, evidence-based, and insightful synthesis.
Global Globin 2020 Challenge: Developing capacity for gene variant data shari...Human Variome Project
The document discusses the Global Globin 2020 Challenge which aims to increase genetic data sharing related to hemoglobinopathies from low and middle-income countries. The three goals are to grow quality genetic database inputs from these countries, harmonize data sharing between countries according to ethical standards, and ensure sustainable medium-term data storage, curation and sharing by strengthening international professional networks. It provides background on the high prevalence of hemoglobin disorders like sickle cell disease in Africa and challenges in diagnosis and treatment. The challenge will work to raise awareness, integrate new technologies into healthcare, and achieve cross-country cooperation and knowledge sharing to address hemoglobinopathies and genomic medicine more broadly.
The document summarizes information about the Canadian Open Genetics Repository (COGR), which serves as the HVP Country Node for Canada. It provides details on clinical genetics resources in Canada, the structure and funding of COGR, its data sharing policies and technical capabilities. COGR's data holdings have doubled in the past year and it plans to strengthen genomic data sharing by publishing findings and seeking additional funding. The primary challenges are obtaining funding and data from all sites.
ETS Careers is a company that helps prior military members find civilian careers. Their mission is to support veterans and showcase their value to employers. They offer an online profile and job search to veterans for free, and charge companies to post jobs and access veteran resumes. The document discusses the founder and CEO, strengths like their military network, weaknesses like lack of funds, opportunities in military-friendly areas, threats from competitors, sales projections of $95k first year, and a request for $15-20k investment.
Phenotype-based Matching Using PhenoDB Terms in BHCMG PhenoDB to Maximize Who...Human Variome Project
Matchmaking initiatives like GeneMatcher, have demonstrated the utility of gene-based matching for identification of unrelated individuals with similar phenotypes and pathogenic variants in the same gene. Phenotype-based matching (PBM) has been attempted less widely because of challenges such as phenotypic variability, relative paucity of phenotypic details in clinical genomic databases, and the use of variable phenotypic terminology by clinicians and researchers. As part of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG), users submit their cases to PhenoDB using PhenoDB phenotypic terms, which enables the use of semantic-similarity based methodologies to quantify phenotypic overlap within the database. To test PBM, we initially compared the following methodologies: Jacquard, Distance, Resnick (OMIM-based and PhenoDB-based corpora), and Wang. The Resnick-PhenoDB algorithm uses the phenotypic features that describe 4,114 cases in PhenoDB as the corpus for calculation of information content instead of the OMIM clinical synopses or HPO annotations. To validate the matching algorithms, we utilized a simulated set of 55 cases phenotyped by using the OMIM clinical synopsis of four well known phenotypes (OMIM 136140, 615960, 117650, 615273), and demonstrated that for 3 of the 4 disorders, all cases known to have the same disorder had the highest phenotypic similarity scores. We then tested the matching algorithms on phenotypic data from 4,114 unrelated probands in the BHCMG PhenoDB. We chose 3 phenotypes for which multiple unrelated probands are present in the database: Gomez-Lopez-Hernandez Syndrome (N=5, GLHS, OMIM 601853), Hemifacial Microsomia (N=12, HFM, OMIM 164210), and Lateral Meningocele Syndrome (N=5, LMNS, OMIM 130720). The average number of features entered per phenotype was 7.3 for GLHS, 8.14 for HFM and 0.8 for LMNS. We selected one case at random for each condition as the query case and determined the proportion of expected matching cases present in the top 1% and 5% among the 4,114 cases. Resnick-PhenoDB algorithm found that for GLHS, 3 of the 5 expected matching cases were identified among the top 1% and 4 of 5 in the top 5%. For HFM, 2 of the 12 expected matching cases were identified among the top 1% and 4 of 12 in the top 5%. For LMNS, 0 out of the 5 expected matching cases were identified among the top 1% and 0 of 5 in the top 5%. Using a simulated set of cases, we showed that all 5 algorithms performed similarly and that Resnick PhenoDB-based algorithm is able to identify and prioritize the expected matching cases among the total number of cases. Applying the Resnick PhenoDB-based algorithm to the real-world BHCMG PhenoDB showed the importance of detailed case descriptions if PBM is desired. Efforts to improve the availability and consistency of phenotypic annotations, as well as enhanced similarity calculation methodologies, will improve the fidelity and utility of PBM.
Legal and regulatory challenges to data sharing for clinical genetics and ge...Human Variome Project
There are many factors that impede genomic variant sharing in the UK, despite it becoming a necessary part of clinical care. These include the lack of a designated infrastructure or mechanism aggravated by the complexity of laws that apply, and fragmented and variable advice from local ‘Caldicott guardians’ who guide NHS trusts on their responsibilities concerning data protection and confidentiality. Since the legitimacy of data sharing in the UK is framed in terms of ‘personal data’ being shared for ‘direct care’ (subject to legal exceptions), the blurred boundaries between clinical care and research, and the spectrum of identifiability of data also lead to differing interpretations resulting in inconsistent practices.
In a multidisciplinary collaboration, the PHG Foundation and the UK’s Association for Clinical Genetic Science co-hosted a workshop to examine the clinical necessity for sharing variant data and associated phenotypic information, the technical feasibility and the legal and regulatory impediments to such sharing. Delegates included clinicians, laboratory scientists, and key policy makers, including the National Data Guardian for Health and Care and representatives from the 100,000 Genomes Project, a pioneering research project which promises to build a legacy for future genomics services in the UK. The key finding from our work was that current arrangements for sharing genomic variants within the NHS are unsatisfactory and inconsistent practices are compromising safety and quality. Our workshop report [1] highlights the urgent need for (i) national agreement to optimise sharing within the NHS and develop consensus on the legitimacy of data sharing, (ii) standardised operational processes, including a designated sustainable database or mechanism for sharing, and (iii) strong leadership by the multiple relevant health organisations to demonstrate the benefits and risks associated with sharing and not sharing data.
Since publication of the workshop report, the NHS Consortium (operating within the DECIPHER database) has reported a 120% increase in the number of cases shared, the 100,000 Genomes Project and associated data embassy have got underway and the EU Data Protection Regulation has been finalised. However research highlights continuing public reservations about some aspects of data sharing including commercial access and misgivings around secondary uses of data. Publication of the National Data Guardian’s long-awaited review of consent and security provisions to provide guidance on a new consent and opt-out model for sharing patient information in the NHS, has been delayed pending the results of the EU referendum being known. Against this backdrop, the imperative to develop robust, proportionate policies for genomic data sharing becomes increasingly acute.
Funding from the PHG Foundation and the Association for Clinical Genetic Science.
The ClinGen Sequence Variant Interpretation Working Group: Refining Criteria ...Human Variome Project
The ClinGen Sequence Variant Interpretation Working Group aims to refine criteria for classifying genetic variants by standardizing how different types of evidence are integrated. In the short term, it will refine and modify current American College of Medical Genetics guidelines. It will work with disease-specific groups to evaluate criteria like population frequency thresholds and computational methods. The long term goal is to develop a quantitative Bayesian framework to classify variants. The working group will analyze ClinVar to identify disease genes with many reported variants to help evaluate criteria.
The BRCA Challenge & Exchange: Progress and Plans - Gunnar RätschHuman Variome Project
The BRCA Challenge aims to improve care for patients at risk of breast and ovarian cancer through global data sharing and collaboration on BRCA1 and BRCA2 variants. It plans to:
1) Share BRCA variants publicly via the BRCA Exchange portal, displaying a curated list of variants interpreted through expert consensus.
2) Address challenges of global data sharing through its organization structure and subcommittees.
3) Create a model for data sharing and analysis for all disease genes.
1. Genetic heterogeneity of mitochondrial disorders is high, with mutations in over 250 nuclear genes and 13 mitochondrial genes known to cause primary mitochondrial disorders. 2. Complex I deficiency is a common presentation and has high genetic and clinical heterogeneity, with mutations in over 30 nuclear genes associated. 3. Mitochondrial translation deficiency is another common presentation, with mutations in over 30 genes encoding mitochondrial aminoacyl-tRNA synthetases and other translation factors associated.
The public relations plan aims to launch the Recruit Combine's National Network Affiliate Program. The mission is to launch the program and the end state is to sell network affiliate programs. The strategy involves special events, press releases, media outreach, and ongoing communications like newsletters and reports to promote the program through media and community engagement. Progress will be evaluated and the plan reimplemented as needed.
This document summarizes partnerships and networks in Africa focused on sickle cell disease (SCD). It describes REDAC, a network established in 2010 with the goal of reducing suffering from SCD in central Africa. REDAC has members from 12 countries and provides various services for SCD including newborn screening and diagnostic testing. The document discusses limitations in SCD care in member countries like lack of treatment access and trained healthcare workers. It outlines REDAC's involvement in multi-country research studies and partnerships with other SCD groups to strengthen care, advocacy, and training regionally and through North-South collaborations.
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa LandrumHuman Variome Project
The rate of variant discovery continues to surpass the rate of clinicalgrade interpretation. This is a challenge for precision medicine, because fast, reliable access to variant interpretations is necessary to provide well-informed and timely interpretations of test results to patients. ClinVar is a public repository for interpretations of clinical significance and functional effects of variants in any gene and for any disease. Interpretations are submitted by many sources, including clinical testing laboratories, research laboratories, locus-specific databases, expert panels, practice guidelines, as well as OMIM® and GeneReviews™. Collecting variant interpretations in ClinVar depends on integrating data from these different sources, which has several benefits. First, data integration requires standardizing the data from each source. This improves the quality of the data in ClinVar as well as in each of the individual datasets. ClinVar staff validate HGVS expressions as a routine part of ClinVar submission processing. Submitters are encouraged to use standard terms in MedGen for diseases and phenotypes. Standard terms for clinical significance are used in ClinVar when available; for example, ClinVar uses the terms recommended by ACMG to classify variants for Mendelian diseases. Secondly, ClinVar aggregates all data for a variant defined by its genomic location. Therefore, HGVS descriptions on different transcripts or on different genomic sequences can be recognized as the same variant. Thirdly, integrating data from multiple submitters allows the evidence from all sources to be pooled together. This larger collection of evidence aids the re-evaluation of variant classifications, and is especially valuable for rare variants and novel gene-disease relationships. Fourthly, data integration means that variant interpretations from different sources can be viewed together and compared. Thus a ClinVar user has access to interpretations outside any internal system and knows when there is consensus in the interpretation or not. Submitting laboratories use reports of conflicting interpretations in ClinVar to prioritize variants that they should re-evaluate. ClinVar receives data from many data providers, and therefore provides clear attribution to each contributing group, including links to records in LSDBs. Each source may update their submission to ClinVar at any time. For example, a record may be updated when a variant is re-classified or when additional evidence is available to support the interpretation. Submitters may consider providing regular updates to ClinVar to prevent their interpretations from becoming out of date. Submissions to ClinVar describe variants that range in complexity from simple alleles with explicit sequence locations through copy number changes and cytogenetic rearrangements with fuzzy boundaries.
Instruction Designe for e-Content Development;UK-India ProspectiveMazhar Laliwala
The document discusses designing effective learner-centric e-content for open and distance learning from an Indian perspective. It addresses creating contextualized and learner-centered online content that engages learners and fosters collaboration, reflection, and links to real-world job skills. Effective learning design integrates individual self-paced learning into the overall program. The status and models of open universities in India are also examined.
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Jose silva lugo - advantages of monitoring sakai usage
1. The Advantages of Monitoring
Sakai Usage
By
Jose L. Silva-Lugo
Carl J. Perry
John R. Boekenoogen
e-Learning Support Services
Office of Academic Technology
University of Florida
2. Introduction
2
The University of Florida (UF)’s contract with
Blackboard WebCT was going to end in October 2010.
In Spring of 2009, UF came up with four options: Sakai,
Blackboard, Moodle, and Angel.
UF ran open meetings with each vender.
UF set up test sites for faculty, staff, and students.
UF selected Sakai
6/10/2012
3. Introduction: Planning, Testing, & Implementation
3
2009 2010 2011 2012
Process Dec Spr Sum Fall Spr Sum Fall Spr
Planning
Pilot Study
Migration
Introd. to UF
Roll Out
Workshops
Open Labs
Webinars
6/10/2012
4. Introduction: Training & Assistant Offer to UF
4
• Getting Started
• Moving On
Workshops • Evaluating knowledge with online assessment
• Begin a new semester
• End a semester
• 1 h consultation per week
Open labs • There is no need of appointment
• Every Tuesdays through the semester
Webinar • 30 minutes per week
• Every Wednesday through the semester
6/10/2012
5. Introduction: The Need of Monitoring Sakai Usage
5
Even though the effort of promoting Sakai carried out
from summer 2010 to 2011, we did not have the
expected attendance.
We decided to look our records to:
Find out the percentage of courses, sections, and instructors
using Sakai per college/year
Identify the colleges with percentages less than 50% used of
Sakai
Plot the percentage of courses, sections, and instructors per
semester
Target colleges with a marketing program
6/10/2012
6. Methodology: Databases
6
Data was retrieved from the network:
Registrar Office: IBM DB2 database
Middleware: MySQL database
Language used to query the database:
A PHP script queried both database (< 5 seconds).
The same script merged and compared the results (5-
20 seconds).
6/10/2012
7. Methods: Points of Interest about Querying
7
You need to understand the database.
You have to find how to best compare the results:
The Registrar DB2 had zero to many instructors associated with a
section
The Registrar DB2 used postfix characters in the course name, such
as for labs
The results produced from each database were accurate and
error free.
Manipulating large data sets and verifying the results were
accurate.
6/10/2012
8. Methodology: Calculating Percentages
8
Registrar (Total) Middleware (Sakai)
• Courses • Courses
• Sections • Sections
• Instructors • Instructors
No. of Courses Middleware
% of Courses = Xx 100
No. of Courses Registrar
6/10/2012
9. Methodology: Statistics
9
Statistical Analysis:
Proportion comparison:
Between 2010 and 2011 for courses, sections, and
instructors per college
Between semesters for courses, sections, and instructors
Alpha level = 0.05
Two-tailed test
6/10/2012
10. No. of Courses from the Registrar Office and Middleware in 2010 & 2011
2010 2011
College Registrar 10
Middleware Percentage Registrar Middleware Percentage
DESIGN, CONSTRUCTION AND PLANNING 307 91 29.64 348 256 73.56
HEALTH AND HUMAN PERFORMANCE 383 91 23.76 423 282 66.67
ENGINEERING 1,100 218 19.82 1,127 445 39.49
JOURNALISM AND COMMUNICATIONS 311 57 18.33 289 191 66.09
MEDICINE 534 92 17.23 519 116 22.35
PHARMACY 244 42 17.21 296 150 50.68
LIBERAL ARTS AND SCIENCES 3,138 455 14.50 2,872 1,237 43.07
PUBLIC HEALTH & HEALTH PROFESSIONS 457 65 14.22 458 245 53.49
BUSINESS ADMINISTRATION 645 88 13.64 653 406 62.17
AGRICULTURAL AND LIFE SCIENCES 1,602 213 13.30 1,647 573 34.79
CROSS-COLLEGE 36 4 11.11 47 0 0.00
FINE ARTS 1,022 56 5.48 1,037 179 17.26
VETERINARY MEDICINE 259 13 5.02 264 51 19.32
EDUCATION 630 18 2.86 662 54 8.16
DENTISTRY 244 1 0.41 279 5 1.79
ACCOUNTING 64 0 0.00 65 0 0.00
BUILDING CONSTRUCTION 211 0 0.00 218 0 0.00
CONTINUING EDUCATION 209 0 0.00 171 0 0.00
LEVIN COLLEGE OF LAW 190 0 0.00 550 11 2.00
MILITARY 62 0 0.00 55 0 0.00
NURSING 133 0 0.00 130 88 67.69
Total 11,781 1,504 12.77 12,110 4,289 35.42
6/10/2012
30. Discussion
30
In general, course, sections, and instructors
using Sakai are not monitored.
This simple procedure has the following
advantages:
Provide information about the proportion of
instructors, courses, and sections using Sakai.
It helps to monitor the implementation process.
It creates the database for marketing programs.
It might be used to evaluate success at the college and
at university level.
6/10/2012
31. Conclusions
31
There was significant increase in their proportions
of courses, sections, and instructors from 2010 to
2011 in the majority of the colleges.
There was significant increase in their proportions
of courses, sections, and instructors per semester.
We have identified the colleges that need more our
attention, and we are targeting them with a
marketing program.
Monitoring Sakai usage is important during the
implementation and evaluation of the overall
success at the college and university level.
6/10/2012