Report from the International Scientific Advisory Committee - John Burn
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The document summarizes a report from the International Scientific Advisory Committee meeting of the Human Variome Project held from June 11-15, 2012 in Paris. It lists the voting and non-voting members of the committee and provides information on their accountabilities, remit, and domains. These include providing strategic scientific direction, approving publications, authorizing new initiatives, and making recommendations on behalf of the Human Variome Project Consortium. It also mentions functional classification of SNPs identified and goals of establishing standards, facilitating research, and strengthening capacity for sharing genomic data equitably and sustainably.
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- LOVD is a variant database with over 7,000 individuals and 18,500 variants currently focused on HBB. ITHANET is a complementary web platform.
- They aim to integrate the databases and platforms to allow seamless, disease-specific access to variant and clinical data, with visualizations.
- Challenges include deciding which data to include and how to design suggested fields for the genotype-phenotype database.
- Input is needed on how to best collect and integrate the data between the two systems to create an effective global database.
Potential impact of conflict on Haemoglobinopathies - Carsten W. Lederer
A look at what might occur across the globe in relation to hameoglobinopathies as a result of conflict and the resulting migration
Project Roadmap 2016-2020 - Chris Arnold
The Human Variome Project (HVP) grew its membership and established initiatives between 2016-2020. It published standards and guidelines and strengthened relationships with international organizations. Its goals were increasing publicly available genomic variant data and supporting clinical genomics worldwide. To achieve this, it aimed to facilitate data sharing partnerships, promote standards, advance research, build genomic capacities, and train the next generation of scientists. Moving forward, it plans for its coordination function to transition to a new not-for-profit called Global Variome Ltd.
GG2020 Developing capacity for variant data sharing in low- and middle-income...
GG2020 Developing capacity for variant data sharing in low- and middle-income...Human Variome Project
Global Globin 2020 Challenge aims to develop capacity for variant data sharing in low and middle income countries. The document summarizes disease burden and national coordination efforts related to hemoglobinopathies in Latin American countries (Mexico, Colombia, Costa Rica, Panama), Brazil, Uruguay, and Venezuela. It provides local contacts interested in participating in the initiative to address gaps in epidemiological data, centralized reporting, public education and clinical care programs for conditions like sickle cell disease and thalassemias.HVP Country Node: Venezuela - Aida Falcon de Vargas
The Venezuelan Country Node was established in 2012 and is organized through a Steering Committee and Advisory Groups. It currently has 35 clinical laboratories, 60 clinicians, and genetic counseling is performed by clinicians. Genetic healthcare services are provided partially through the national health system and private sector, though the national system has insufficient budgeting. The Country Node is working to establish a national data repository and develop data collection, access, and ownership policies, though it currently lacks funding and only has data available within individual institutions. Its plans for the next year include continuing collaboration efforts and workshops to build databases and train professionals to develop the national genomic infrastructure.
A process for accreditation of HVP Country Nodes
This panel concludes an entire day of sessions at the 4th Biennial Meeting of the Human Variome Project Consortium discussing HVP Country Nodes and attempting to better define what they are and what they do in the light of Project Roadmap 2012-2016. It looked specifically at the idea of providing accreditation for HVP Country Nodes and discuss how such an accreditation process would work.
The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
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:
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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.
Project Roadmap 2012-2016
The document presents the Project Roadmap 2012-2016 of the Human Variome Project International Ltd. It summarizes achievements since the previous 2010 roadmap and outlines the vision, goals and plan to advance the project over the 2012-2016 period. The roadmap is built around 4 pillars - setting normative function, behaving ethically, sharing knowledge, and building capacity. Key targets include developing standards and guidelines, increasing membership, ethical and educational initiatives, and establishing more country nodes and disease-specific databases. Challenges and securing long-term funding are also discussed. Members are invited to engage in discussions and help implement the roadmap through considered actions. Progress will be reviewed at the halfway point in 2014.
Haemoglobinopathies
The document discusses haemoglobin disorders and haemoglobinopathies. It provides details on the molecular basis, inheritance patterns, clinical presentation and diagnosis of conditions like thalassaemia, sickle cell disease and other haemoglobin variants. Key points include that haemoglobin disorders are globally common due to ancestral mutations, are usually inherited in an autosomal recessive pattern, and can be diagnosed through blood tests, family history and molecular genetic analysis. Screening programs have helped identify carriers and provide prenatal diagnosis services.
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The Human Variome Database in Australia in 2014 - Graham Taylor
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Richard GH Cotton: He may have been a bit before his time - Michael Watson
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Global Globin 2020 Challenge: Ethical, Legal and Social Issues - Helen Robinson
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GG2020 Developing capacity for variant data sharing in low- and middle-income...
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HVP Country Node: Venezuela - Aida Falcon de Vargas
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The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
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ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
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.
The BRCA Share(TM) Consortium - Christophe Beroud
The BRCA ShareTM Consortium is a public-private partnership that promotes sharing of BRCA genetic data. It has over 35,000 BRCA test results from US and French clinical labs. The goal is to accelerate BRCA research. It is a open user group co-founded by Inserm and Quest Diagnostics. BRCA ShareTM is well adopted internationally. In June 2016, it incorporated new data from private partners, increasing the number of known BRCA mutations. The consortium of French experts helps curate and reclassify variants of unknown significance based on multiple lines of evidence. This benefits all partners through improved annotation of shared variants.
Establishing validity, reproducibility, and utility of highly scalable geneti...
Establishing validity, reproducibility, and utility of highly scalable geneti...Human Variome Project
Background: New technologies and increased competition have, and will continue to improve the cost-effectiveness of genetic testing, making genetic analysis more accessible to medical practices worldwide. However, challenges remain to establishing the validity of such tests. Moreover many patients harbor rare or novel variants and classification is likely to remain a bottleneck in broader deployment of genetic medicine.The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne HugginsHuman Variome Project
Introduction and Background: The Web-based PhenX Toolkit (consensus measures for Phenotypes and eXposures, https://www. phenxtoolkit.org/) is a catalog of standard measures designed to facilitate collaborative biomedical research. PhenX measures help ensure that phenotypes from different studies are collected and represented in a consistent format. This consistency can enable data comparability across sites in large cohorts (e.g., Precision Medicine Initiative) and facilitates combining data to validate clinically actionable variants, increase statistical power (e.g., studies of rare genetic conditions or gene-enviroment interactions), or compare treatments and outcomes between patients.Legal and regulatory challenges to data sharing for clinical genetics and ge...
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.Report from the International Confederation of Countries Advisory Council - M...
Report from the International Confederation of Countries Advisory Council - M...Human Variome Project
This document summarizes discussions from Session V of the Human Variome Project on Thursday June 2nd.
It provides information on 3 country nodes - Austria, Democratic Republic of Congo, and an interim node. For Austria, it outlines the genetic testing landscape, notes progress establishing a national genetic database, and plans for selecting database software in the next year. It also briefly mentions the Democratic Republic of Congo and an interim country node. The document discusses challenges around data sharing, quality, and submission across national databases.Human variome project quality assessment criteria for variation databases - M...
Human variome project quality assessment criteria for variation databases - M...Human Variome Project
This document discusses quality assessment criteria for variation databases that are developed by the Human Variome Project working group. It outlines two key components of quality - the contents, update frequency, and quality of numerous available variation databases. It also describes work done by the working group to produce guidelines for defining variation database quality, which includes evaluating databases based on criteria and providing feedback and an electronic seal to indicate quality. The document concludes by outlining next steps, which include beta testing the quality evaluation scheme with real databases, performing independent evaluations of databases, and refining the quality criteria over time through voluntary participation.Human Genetics of Infectious Diseases - Laurent Abel
This document discusses human genetics research into infectious diseases. It summarizes that:
1) Genetic factors contribute to variability in individual responses to infection exposure and clinical outcomes. Rare single gene mutations can cause highly selective predispositions to specific pathogens like Herpes simplex virus-1 or mycobacteria.
2) Research has identified genetic causes of severe infectious diseases like Herpes simplex encephalitis and Mendelian susceptibility to mycobacterial disease. Defects in the TLR3 and IL-12/IFN-γ pathways increase risk.
3) Genome-wide studies of common infections like tuberculosis have found limited roles for common variants but suggest searching for rare variants using deep sequencing. Gen
HVP Country Node: Malaysia - Zilfalil bin Alwi
The document summarizes information about the Malaysian Node of the Human Variome Project (MyHVP).
It provides details such as:
- MyHVP was established in 2010 and is funded by Universiti Sains Malaysia.
- It is linked to several national human genetics societies and has an ethical framework for privacy and consent approved by Universiti Sains Malaysia.
The document also outlines MyHVP's technical aspects including its national data repository, data sharing policies, and plans to increase engagement and publications over the next 12 months. It notes that continued funding is one challenge faced.
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
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.
Professor Richard Cotton - Finlay Macrae
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HVP Country Node: Canada - Matthew Lebo
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.
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Translation of genomics into medicine and drug development requires comprehensive, high-quality, genomic variant databases. To support translation, there is a movement towards sharing clinical annotations of variants (e.g., benign, unknown, pathogenic) internationally via open access. Despite the growing popularity of variant databases, ethical issues and liability risks have received scant attention. Ethical priorities for variant databases include 1) competence – ensuring that data is responsibly managed, curated, and used; 2) confidentiality – ensuring appropriate safeguards for patient data; 3) communication – clearly describing the purpose, quality standards, and data handling practices to contributing patients and potential users; and 4) continuous oversight to adapt database governance in a rapidly evolving environment. How can database managers fulfill these obligations when these responsibilities are increasingly distributed along the clinical pipeline? Legal issues include medical liability based on potential harm to patients; liability based on third-party intellectual property or privacy rights in the data; and regulatory risks as variant data is integrated into genetic tests or devices. Can these risks can be managed through appropriate governance structures – including adequate consents, access processes, contributor agreements, and disclaimers – while still facilitating sharing and clinical use?
HVP6: Final Thoughts - John Burn & Raj Ramesar
This document summarizes discussions from a workshop on developing capacity for gene variant data sharing in low and middle income countries. It outlines sessions on understanding the challenges, the current situations in different global regions, ELSI issues, funding and partnerships. Key outcomes include practical steps to develop LOVD databases, recommendations on hemoglobinopathies, and plans to facilitate networks through WHO collaborating centers and a future meeting in sub-Saharan Africa. The overall goal is to strengthen global collaboration and data sharing for conditions like sickle cell disease and thalassemias.
HVP Country Node: Italy - Domenico Coviello
The document summarizes Italy's HVP Country Node activities. It provides an overview of genetic services and resources in Italy, including 198 genetic diagnostic laboratories and approximately 200 clinicians. The HVP Country Node was established in 2014 and is endorsed by the national genetics society SIGU. However, it currently lacks formal policies and infrastructure for data sharing. Plans over the next 12 months include establishing a consortium to formalize collaboration for building a national website and installing LOVD software for a national database. The main challenges are a lack of financial and administrative support.
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...Human Variome Project
1) The document discusses the genetic factors that contribute to Hirschsprung disease (HSCR), a congenital disorder caused by the lack of enteric nervous system in parts of the intestine.
2) It finds that both rare and common genetic variants contribute to the complex inheritance of HSCR. Common variants were identified in RET, NRG1 and SEMA3C-3D genes, with ethnic differences in frequencies.
3) Rare coding variants were also found to influence risk, suggesting HSCR has a complex genetic architecture involving both regulatory and coding changes across several loci. Understanding how these various genetic factors interact remains an area of ongoing research.Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...Human Variome Project
A report from the Chair of the Human Variome Project Gene & Disease Specific Database Advisory CouncilChecking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...Human Variome Project
We have investigated compliance with guidelines regarding HGVS nomenclature and/or submission of variants to public databases in the author instructions of several genetics and genomics journals. For this, we used a list of genetics and genomics journals created by the Human Variome Project (HVP) office (See http://www.humanvariomeproject.org/resources/genetics-and-genomics-journals.html). The HVP aims to work towards open and free sharing of high quality information on genetic variation and its effect on human health. The HVP Gene and Disease-specific Database Council has created example instructions for authors for genetics and genomic journals containing guidelines regarding HGVS nomenclature and submission of variants to public databases. The HVP office has sent this document to journal editors asking them to include similar requirements in their instructions for authors. The rationale is that better instructions will help improving the quality of variant descriptions in manuscripts and access to variant information in databases.
We have used this list to select journals including both requirements. We have investigated the January 2016 issue of several of them. A group of students has checked the publications first for the basic requirements: mentions of the reference sequence used to describe variants and the presence of the variants in public databases. The next step was to check variant and phenotype descriptions with specific attention for predicted protein effects. Our preliminary results suggest that predicted protein effects in publications cannot be verified in case of altered splice sites without supporting RNA-level evidence or in case of insertions of unspecified nucleotides. Although the underlying variants are likely to have disease-causing effects, lack of supporting evidence disqualifies this information for diagnostic use. In several cases, the RNA-level information was specified in the gene variant database submission, indicating that submission of variants to databases prior to manuscript acceptance might improve the quality of publications. We have observed that authors include statements suggesting variants have been submitted to databases, but the variants were not found. Reviewers and journal editors could help improving manuscript quality by insisting on compliance and enforcing the existing guidelines.Pathogenicity Decision Pathway in Tuberous Sclerosis Complex - Rosemary Ekong
Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). This disease is variable in severity and classically causes seizures, intellectual disability, behavioural difficulties, brain tumours, heart tumours, renal tumours and a facial rash. It occurs worldwide and is found in approximately one in 10,000 live births. It can be inherited as an autosomal dominant disorder, but about 70% of cases are new in the family and there is a significant risk of recurrence in a second child because of gonadal mosaicism in one of the parents. In some cases, mildly affected individuals are not recognised till the birth of a severely affected child. Genetic testing is needed both for diagnosis and for reproductive decisions, but in at least 10% of tests the causative change is not found. There are also many TSC variants of uncertain significance which are often unique.
The TSC1 and TSC2 databases (www.lovd.nl/TSC1 and www.lovd.nl/TSC2) attempt to record all TSC variants which have been reported, both in the contest of genetic testing for TSC and in other clinical conditions. Classification of the pathogenicity of these TSC variants in the TSC1 and TSC2 databases refers to their ability to cause TSC. Data from August 2015 show 889 different small variants for TSC1 of which 66% were pathological and 9% were not. For TSC2, there were 2522 different small variants of which 50% were pathological and 9% were not. All others were to some extent uncertain.
Recent advances in the quantity and quality in NGS, and the access to enormous amounts of population data have produced many challenging opportunities to improve variant classification. We have now formalised our decision-making on the pathogenicity of variants and this uses type and position, likely effect of variant, confidence in diagnosis, frequency of variant in different patients, family details including de novo reports, co-occurrence with known harmful variant, and where appropriate, an in vitro function assay. We now also screen our database automatically for duplicates in very large cohort datasets, most of which do not have extensive phenotype data. We will present our current practice for interpretation and would welcome comments.
The TSC variation databases are funded by the TSA and the TS Alliance.
HVP Country Node: The Netherlands - Marielle van Gijn
The Netherlands has 9 clinical genetics laboratories, around 43,000 clinicians, and 160 genetic counselors. Genetic testing is funded through health insurance. The country node was established in 2015 and operates through genetic societies and research organizations, but lacks independent structure and funding. Currently, genetic data is stored locally at each of the 9 centers and some disease-specific databases. Plans for the next 12 months include starting a national database, but challenges include a lack of resources, priority, and clear privacy guidelines.
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The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
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Report from the International Confederation of Countries Advisory Council - M...
Human variome project quality assessment criteria for variation databases - M...
Human variome project quality assessment criteria for variation databases - M...
Human Genetics of Infectious Diseases - Laurent Abel
Human Genetics of Infectious Diseases - Laurent Abel
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Checking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...
Pathogenicity Decision Pathway in Tuberous Sclerosis Complex - Rosemary Ekong
Pathogenicity Decision Pathway in Tuberous Sclerosis Complex - Rosemary Ekong
HVP Country Node: The Netherlands - Marielle van Gijn
HVP Country Node: The Netherlands - Marielle van Gijn
Recently uploaded
Randomised Optimisation Algorithms in DAPHNE
Slides from talk:
Aleš Zamuda: Randomised Optimisation Algorithms in DAPHNE .
Austrian-Slovenian HPC Meeting 2024 – ASHPC24, Seeblickhotel Grundlsee in Austria, 10–13 June 2024
https://ashpc.eu/
Phenomics assisted breeding in crop improvement
As the population is increasing and will reach about 9 billion upto 2050. Also due to climate change, it is difficult to meet the food requirement of such a large population. Facing the challenges presented by resource shortages, climate
change, and increasing global population, crop yield and quality need to be improved in a sustainable way over the coming decades. Genetic improvement by breeding is the best way to increase crop productivity. With the rapid progression of functional
genomics, an increasing number of crop genomes have been sequenced and dozens of genes influencing key agronomic traits have been identified. However, current genome sequence information has not been adequately exploited for understanding
the complex characteristics of multiple gene, owing to a lack of crop phenotypic data. Efficient, automatic, and accurate technologies and platforms that can capture phenotypic data that can
be linked to genomics information for crop improvement at all growth stages have become as important as genotyping. Thus,
high-throughput phenotyping has become the major bottleneck restricting crop breeding. Plant phenomics has been defined as the high-throughput, accurate acquisition and analysis of multi-dimensional phenotypes
during crop growing stages at the organism level, including the cell, tissue, organ, individual plant, plot, and field levels. With the rapid development of novel sensors, imaging technology,
and analysis methods, numerous infrastructure platforms have been developed for phenotyping.
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
学校原件一模一样【微信：741003700 】《(salfor毕业证书)索尔福德大学毕业证》【微信：741003700 】学位证，留信认证（真实可查，永久存档）原件一模一样纸张工艺/offer、雅思、外壳等材料/诚信可靠,可直接看成品样本，帮您解决无法毕业带来的各种难题！外壳，原版制作，诚信可靠，可直接看成品样本。行业标杆！精益求精，诚心合作，真诚制作！多年品质 ,按需精细制作，24小时接单,全套进口原装设备。十五年致力于帮助留学生解决难题，包您满意。
本公司拥有海外各大学样板无数，能完美还原。
1:1完美还原海外各大学毕业材料上的工艺：水印，阴影底纹，钢印LOGO烫金烫银，LOGO烫金烫银复合重叠。文字图案浮雕、激光镭射、紫外荧光、温感、复印防伪等防伪工艺。材料咨询办理、认证咨询办理请加学历顾问Q/微741003700
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二.真实使馆公证(即留学回国人员证明,不成功不收费)
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留信网认证的作用:
1:该专业认证可证明留学生真实身份
2:同时对留学生所学专业登记给予评定
3:国家专业人才认证中心颁发入库证书
4:这个认证书并且可以归档倒地方
5:凡事获得留信网入网的信息将会逐步更新到个人身份内，将在公安局网内查询个人身份证信息后，同步读取人才网入库信息
6:个人职称评审加20分
7:个人信誉贷款加10分
8:在国家人才网主办的国家网络招聘大会中纳入资料，供国家高端企业选择人才
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...University of Maribor
Slides from talk:
Aleš Zamuda: Remote Sensing and Computational, Evolutionary, Supercomputing, and Intelligent Systems.
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Inter-Society Networking Panel GRSS/MTT-S/CIS Panel Session: Promoting Connection and Cooperation
https://www.etran.rs/2024/en/home-english/Compexometric titration/Chelatorphy titration/chelating titration
Classification
Metal ion ion indicators
Masking and demasking reagents
Estimation of Magnisium sulphate
Calcium gluconate
Complexometric Titration/ chelatometry titration/chelating titration, introduction, Types-
1.Direct Titration
2.Back Titration
3.Replacement Titration
4.Indirect Titration
Masking agent, Demasking agents
formation of complex
comparition between masking and demasking agents,
Indicators/Metal ion indicators/ Metallochromic indicators/pM indicators,
Visual Technique,PM indicators (metallochromic), Indicators of pH, Redox Indicators
Instrumental Techniques-Photometry
Potentiometry
Miscellaneous methods.
Complex titration with EDTA.
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Current descriptions of immersive learning cases are often difficult or impossible to compare. This is due to a myriad of different options on what details to include, which aspects are relevant, and on the descriptive approaches employed. Also, these aspects often combine very specific details with more general guidelines or indicate intents and rationales without clarifying their implementation. In this paper we provide a method to describe immersive learning cases that is structured to enable comparisons, yet flexible enough to allow researchers and practitioners to decide which aspects to include. This method leverages a taxonomy that classifies educational aspects at three levels (uses, practices, and strategies) and then utilizes two frameworks, the Immersive Learning Brain and the Immersion Cube, to enable a structured description and interpretation of immersive learning cases. The method is then demonstrated on a published immersive learning case on training for wind turbine maintenance using virtual reality. Applying the method results in a structured artifact, the Immersive Learning Case Sheet, that tags the case with its proximal uses, practices, and strategies, and refines the free text case description to ensure that matching details are included. This contribution is thus a case description method in support of future comparative research of immersive learning cases. We then discuss how the resulting description and interpretation can be leveraged to change immersion learning cases, by enriching them (considering low-effort changes or additions) or innovating (exploring more challenging avenues of transformation). The method holds significant promise to support better-grounded research in immersive learning.
bordetella pertussis.................................ppt
Bordettela is a gram negative cocobacilli spread by air born drop let
Thornton ESPP slides UK WW Network 4_6_24.pdf
ESPP presentation to EU Waste Water Network, 4th June 2024 “EU policies driving nutrient removal and recycling
and the revised UWWTD (Urban Waste Water Treatment Directive)”
Deep Software Variability and Frictionless Reproducibility
Deep Software Variability and Frictionless ReproducibilityUniversity of Rennes, INSA Rennes, Inria/IRISA, CNRS
The ability to recreate computational results with minimal effort and actionable metrics provides a solid foundation for scientific research and software development. When people can replicate an analysis at the touch of a button using open-source software, open data, and methods to assess and compare proposals, it significantly eases verification of results, engagement with a diverse range of contributors, and progress. However, we have yet to fully achieve this; there are still many sociotechnical frictions.
Inspired by David Donoho's vision, this talk aims to revisit the three crucial pillars of frictionless reproducibility (data sharing, code sharing, and competitive challenges) with the perspective of deep software variability.
Our observation is that multiple layers — hardware, operating systems, third-party libraries, software versions, input data, compile-time options, and parameters — are subject to variability that exacerbates frictions but is also essential for achieving robust, generalizable results and fostering innovation. I will first review the literature, providing evidence of how the complex variability interactions across these layers affect qualitative and quantitative software properties, thereby complicating the reproduction and replication of scientific studies in various fields.
I will then present some software engineering and AI techniques that can support the strategic exploration of variability spaces. These include the use of abstractions and models (e.g., feature models), sampling strategies (e.g., uniform, random), cost-effective measurements (e.g., incremental build of software configurations), and dimensionality reduction methods (e.g., transfer learning, feature selection, software debloating).
I will finally argue that deep variability is both the problem and solution of frictionless reproducibility, calling the software science community to develop new methods and tools to manage variability and foster reproducibility in software systems.
Exposé invité Journées Nationales du GDR GPL 2024
原版制作(carleton毕业证书)卡尔顿大学毕业证硕士文凭原版一模一样
原版纸张【微信：741003700 】【(carleton毕业证书)卡尔顿大学毕业证】【微信：741003700 】学位证，留信认证（真实可查，永久存档）offer、雅思、外壳等材料/诚信可靠,可直接看成品样本，帮您解决无法毕业带来的各种难题！外壳，原版制作，诚信可靠，可直接看成品样本。行业标杆！精益求精，诚心合作，真诚制作！多年品质 ,按需精细制作，24小时接单,全套进口原装设备。十五年致力于帮助留学生解决难题，包您满意。
本公司拥有海外各大学样板无数，能完美还原海外各大学 Bachelor Diploma degree, Master Degree Diploma
1:1完美还原海外各大学毕业材料上的工艺：水印，阴影底纹，钢印LOGO烫金烫银，LOGO烫金烫银复合重叠。文字图案浮雕、激光镭射、紫外荧光、温感、复印防伪等防伪工艺。材料咨询办理、认证咨询办理请加学历顾问Q/微741003700
留信网认证的作用:
1:该专业认证可证明留学生真实身份
2:同时对留学生所学专业登记给予评定
3:国家专业人才认证中心颁发入库证书
4:这个认证书并且可以归档倒地方
5:凡事获得留信网入网的信息将会逐步更新到个人身份内，将在公安局网内查询个人身份证信息后，同步读取人才网入库信息
6:个人职称评审加20分
7:个人信誉贷款加10分
8:在国家人才网主办的国家网络招聘大会中纳入资料，供国家高端企业选择人才
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
Sharlene Leurig - Enabling Onsite Water Use with Net Zero WaterTexas Alliance of Groundwater Districts
Presented at June 6-7 Texas Alliance of Groundwater Districts Business MeetingBob Reedy - Nitrate in Texas Groundwater.pdf
Presented at June 6-7 Texas Alliance of Groundwater Districts Business Meeting
Equivariant neural networks and representation theory
Or: Beyond linear.
Abstract: Equivariant neural networks are neural networks that incorporate symmetries. The nonlinear activation functions in these networks result in interesting nonlinear equivariant maps between simple representations, and motivate the key player of this talk: piecewise linear representation theory.
Disclaimer: No one is perfect, so please mind that there might be mistakes and typos.
dtubbenhauer@gmail.com
Corrected slides: dtubbenhauer.com/talks.html
Recently uploaded (20)
mô tả các thí nghiệm về đánh giá tác động dòng khí hóa sau đốt
mô tả các thí nghiệm về đánh giá tác động dòng khí hóa sau đốt
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Compexometric titration/Chelatorphy titration/chelating titration
Compexometric titration/Chelatorphy titration/chelating titration
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
bordetella pertussis.................................ppt
bordetella pertussis.................................ppt
Deep Software Variability and Frictionless Reproducibility
Deep Software Variability and Frictionless Reproducibility
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
Equivariant neural networks and representation theory
Equivariant neural networks and representation theory
Report from the International Scientific Advisory Committee - John Burn
- 1. Report from the International Scientific Advisory Committee John Burn
- 2. HVP4, UNESCO, Paris, 11-15 June 2012
- 3. An online reference database which will provide free access to all variants which have been assessed and their functional significance validated www.thehumanvariomeproject.org LOVD Nat Genet, 2007. 39(4): p. 433-6
- 4. 4@variomeproj #HVP6 Membership (Voting) Sir John Burn (co-Chair) National Institute of Health Research UK Garry Cutting (co-Chair) Johns Hopkins School of Medicine USA Raymond Dalgleish University of Leicester UK Jordan Lerner-Ellis Mount Sinai Hospital Canada Finlay Macrae The Royal Melbourne Hospital Australia Ming Qi Zhejiang University Medical School China Raj Ramesar University of Cape Town South Africa Juergen Reichardt James Cook University Australia Peter Taschner Leiden University Medical Center The Netherlands Mauno Vihinen Lund University Sweden Michael Watson American College of Medical Genetics and Genomics USA Martina Witsch-Baumgartner Medizinische Universität Innsbruck Austria
- 5. 5@variomeproj #HVP6 Membership (Non-Voting) Arleen Auerbach The Rockefeller University USA Qasim Ayub Wellcome Trust Sanger Institute UK Mireille Claustres IURC, Institut Universitaire Clinical Research France Collet Dandara University of Cape Town South Africa Johan T. den Dunnen Leiden University Medical Center The Netherlands Mona El-Ruby National Research Centre Egypt Aída Falcón de Vargas Venezuelan Central University Venezuela Marc Greenblatt (HGVS President) University of Vermont USA Ada Hamosh McKusick-Nathans Institute for Genetic Medicine USA Helena Kääriäinen (IFHGS President) National Institute for Health and Welfare Finland Dhavendra Kumar University Hospital of Wales UK Rita Inés Noher de Halac National University of Cordoba Argentina Heidi Rehm Harvard Medical School USA Augusto Rojas Martínez Universidad Autónoma de Nuevo León Mexico Katsushi Tokunaga University of Tokyo Japan Thomas Weber Dept. Veterans Affairs New York Harbor Healthcare System USA Ingrid Winship University of Melbourne Australia
- 6. 6 Accountabilities • Providing strategic scientific direction to the Human Variome Project Consortium • Approving the publications of HVP Standards and Guidelines • Chartering Working Groups to work on issues that are not primarily of concerns to gene/disease specific databases or HVP Country Nodes • Authorising the creation of new Project-Wide Initiatives • Making HVP Recommendations • Making Statements on behalf of the Human Variome Project Consortium Domains • Standards Development Process • HVP Standards and Guidelines • HVP Recommendations • Statements on behalf of the Human Variome Project Consortium • Membership requirements of Consortium member classes @variomeproj #HVP6 Remit Purpose Provide advice and consent on the scientific aspects of the activities of the Human Variome Project
- 7. Functional classification of JDW SNPs SNP Type Known SNPs Novel SNPs Missense 8967 2421 Nonsense 44 5 Synonymous 9121 2261 UTR 18517 7102 Intron 922048 381924
- 11. 11 • standards & nomenclature • Facilitate • Support..integration • Research…variome • Strengthen capacity • Sharing...equitable... .sustainable @variomeproj #HVP6 BRCA Challenge & GG2020
- 12. Mike Fin Garry John Dick