A biological database providing free online retrieval of all the literature related to genetic diseases and their relationships with the phenotypes which are submitted by the medical and biological researchers that are updated regularly
It is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
One of the best websites for detailed and updated information of genetic diseases.
Set up in 1995 by the National Centre for Biotechnology Information (NCBI).
Genome annotation, NGS sequence data, decoding sequence information, The genome contains all the biological information required to build and maintain any given living organism.
It is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
One of the best websites for detailed and updated information of genetic diseases.
Set up in 1995 by the National Centre for Biotechnology Information (NCBI).
Genome annotation, NGS sequence data, decoding sequence information, The genome contains all the biological information required to build and maintain any given living organism.
After sequencing of the genome has been done, the first thing that comes to mind is "Where are the genes?". Genome annotation is the process of attaching information to the biological sequences. It is an active area of research and it would help scientists a lot to undergo with their wet lab projects once they know the coding parts of a genome.
INTRODUCTION OF BIOINFORMATICS
HISTORY
WHAT IS DATABASE
NEED FOR DATABASE
TYPES OF DATABASE
PRIMARY DATABASE
NUCLEIC ACID SEQUENCE DATABASE
GENE BANK
INTRODUCTION
GENE BANK SUBMISSION TOOL
GENE BANK SUBMISSION TYPE
HOW TO RETRIEVE DATA FROM GENEBANK
APPLICATION
CONCLUSION
REFERENCE
Gene prediction is the process of determining where a coding gene might be in a genomic sequence. Functional proteins must begin with a Start codon (where DNA transcription begins), and end with a Stop codon (where transcription ends).
Secondary Structure Prediction of proteins Vijay Hemmadi
Secondary structure prediction has been around for almost a quarter of a century. The early methods suffered from a lack of data. Predictions were performed on single sequences rather than families of homologous sequences, and there were relatively few known 3D structures from which to derive parameters. Probably the most famous early methods are those of Chou & Fasman, Garnier, Osguthorbe & Robson (GOR) and Lim. Although the authors originally claimed quite high accuracies (70-80 %), under careful examination, the methods were shown to be only between 56 and 60% accurate (see Kabsch & Sander, 1984 given below). An early problem in secondary structure prediction had been the inclusion of structures used to derive parameters in the set of structures used to assess the accuracy of the method.
Some good references on the subject:
The Protein Information Resource, is an integrated public bioinformatics resource to support genomic and proteomic research, and scientific studies & contains protein sequences databases
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest. Physical maps are used to help scientists identify and isolate genes by positional cloning.
According to the ICSM (Intergovernmental Committee on Surveying and Mapping), there are five different types of maps: General Reference, Topographical, Thematic, Navigation Charts and Cadastral Maps and Plans.
After sequencing of the genome has been done, the first thing that comes to mind is "Where are the genes?". Genome annotation is the process of attaching information to the biological sequences. It is an active area of research and it would help scientists a lot to undergo with their wet lab projects once they know the coding parts of a genome.
INTRODUCTION OF BIOINFORMATICS
HISTORY
WHAT IS DATABASE
NEED FOR DATABASE
TYPES OF DATABASE
PRIMARY DATABASE
NUCLEIC ACID SEQUENCE DATABASE
GENE BANK
INTRODUCTION
GENE BANK SUBMISSION TOOL
GENE BANK SUBMISSION TYPE
HOW TO RETRIEVE DATA FROM GENEBANK
APPLICATION
CONCLUSION
REFERENCE
Gene prediction is the process of determining where a coding gene might be in a genomic sequence. Functional proteins must begin with a Start codon (where DNA transcription begins), and end with a Stop codon (where transcription ends).
Secondary Structure Prediction of proteins Vijay Hemmadi
Secondary structure prediction has been around for almost a quarter of a century. The early methods suffered from a lack of data. Predictions were performed on single sequences rather than families of homologous sequences, and there were relatively few known 3D structures from which to derive parameters. Probably the most famous early methods are those of Chou & Fasman, Garnier, Osguthorbe & Robson (GOR) and Lim. Although the authors originally claimed quite high accuracies (70-80 %), under careful examination, the methods were shown to be only between 56 and 60% accurate (see Kabsch & Sander, 1984 given below). An early problem in secondary structure prediction had been the inclusion of structures used to derive parameters in the set of structures used to assess the accuracy of the method.
Some good references on the subject:
The Protein Information Resource, is an integrated public bioinformatics resource to support genomic and proteomic research, and scientific studies & contains protein sequences databases
A physical map of a chromosome or a genome that shows the physical locations of genes and other DNA sequences of interest. Physical maps are used to help scientists identify and isolate genes by positional cloning.
According to the ICSM (Intergovernmental Committee on Surveying and Mapping), there are five different types of maps: General Reference, Topographical, Thematic, Navigation Charts and Cadastral Maps and Plans.
How to transform genomic big data into valuable clinical informationJoaquin Dopazo
How to transform genomic big data into valuable clinical information
The impact of genomics in translational medicine: present view
13th October 2014, Vall d’Hebron Institute of Research (VHIR), Barcelona, Spain
Human Disease Ontology Project presented at ISB's Biocurator meeting April 2014Lynn Schriml
The Human Disease Ontology (DO), organized as a directed acyclic graph, represents a knowledge base of inherited, environmental, infectious diseases (http://www.disease-ontology.org). DO's textual definition model incorporates a semi-structured format describing the disease etiology built to capture the complex nature of human disease etiology within a is_a hierarchy. DO includes disease concepts for cancer, metabolic disease, infectious disease, mental disorders, genetic disease and syndromes. DO contains disease definitions, external references to resources including ICD, NCI-metathesaurus, SNOMED, MeSH and OMIM and extended relationships that conform to OBO guidelines. DO provides a central ‘switchboard’ for connecting resources, datasets, and computational tools that include disease terms or relationships.
A recognized expert with 16 years of experience on translational bioinformatics, genomics, and genetics, specialized on developing databases, genome repositories, pipeline, clinical application, and commercial products to analyze next generation sequencing data, and interpret personal genomes and electronic medical records for clinical diagnosis, therapeutics, precision medicine, and predictive disease risk.
Ontologies and Semantic Web technologies play an important role in the life sciences to help make data more interoperable and reusable. There are now many publicly available ontologies that enable biologists to describe everything from gene function through to animal physiology and disease.
Various efforts such as the Open Biomedical Ontologies (OBO) foundry provide central registries for biomedical ontologies and ensure they remain interoperable through a set of common shared development principles.
At EMBL-EBI we contribute to the development of biomedical ontologies and make extensive use of them in the annotation of public datasets. Biological data typically comes with rich and often complex metadata, so the ontologies provide a standard way to capture “what the data is about” and gives us hooks to connect to more data about similar things.
These ontology annotations have been put to good use in a number of large-scale data integration efforts and there’s an increasing recognition of the need for ontologies in making data FAIR (Findable, Accessible, Interoperable and Reusable).
EMBL-EBI build a number of integrative data platforms where ontologies are at the core of our domain models. One example is the Open Targets platform, where data about disease from 18 different databases can be aggregated and grouped based on therapeutic areas in the ontology and used to identify potential drug targets.
The ontologies team at EMBL-EBI provide a suite of services that are aimed at making ontologies more accessible for both humans and machines. We work with scientific data curators and software developers to integrate ontologies and semantics into both the data generation and data presentation workflows. We provide:
– An ontology lookup service (OLS) that provides search and visualisation services to over 200+ ontologies
– Services for automating the annotation of metadata and learning from previous annotations (Zooma)
– An ontology mapping and alignment service (OXO)
– Tools for working with metadata and ontologies in spreadsheets (Webulous)
– Software for enriching documents in search engines to support “semantic” query expansion
I’ll present how we are using these services at EMBL-EBI to scale up the semantic annotation of metadata. I’ll talk about our open source technology stack and describe how we utilise a polyglot persistence approach (graph databases, triples stores, document stores etc) to optimize how we deliver ontologies and semantics to our users.
Mesenchymal Stem Cells Surpass Hematopoietic Stem Cells in the Scientific Lit...BioInformant
In 2015, mesenchymal stem cells (MSC) surpassed hematopoietic stem cells (HSC) for the first time in history, to become the most common stem cell type to appear within the scientific literature.
Mesenchymal stem cells were also the only stem cell type of the five analyzed to have an increase in scientific publications from 2014 to 2015. All four of the other stem cell types decreased in scientific publication frequency during that time period.
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
Embracing GenAI - A Strategic ImperativePeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
Synthetic Fiber Construction in lab .pptxPavel ( NSTU)
Synthetic fiber production is a fascinating and complex field that blends chemistry, engineering, and environmental science. By understanding these aspects, students can gain a comprehensive view of synthetic fiber production, its impact on society and the environment, and the potential for future innovations. Synthetic fibers play a crucial role in modern society, impacting various aspects of daily life, industry, and the environment. ynthetic fibers are integral to modern life, offering a range of benefits from cost-effectiveness and versatility to innovative applications and performance characteristics. While they pose environmental challenges, ongoing research and development aim to create more sustainable and eco-friendly alternatives. Understanding the importance of synthetic fibers helps in appreciating their role in the economy, industry, and daily life, while also emphasizing the need for sustainable practices and innovation.
Honest Reviews of Tim Han LMA Course Program.pptxtimhan337
Personal development courses are widely available today, with each one promising life-changing outcomes. Tim Han’s Life Mastery Achievers (LMA) Course has drawn a lot of interest. In addition to offering my frank assessment of Success Insider’s LMA Course, this piece examines the course’s effects via a variety of Tim Han LMA course reviews and Success Insider comments.
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
Instructions for Submissions thorugh G- Classroom.pptxJheel Barad
This presentation provides a briefing on how to upload submissions and documents in Google Classroom. It was prepared as part of an orientation for new Sainik School in-service teacher trainees. As a training officer, my goal is to ensure that you are comfortable and proficient with this essential tool for managing assignments and fostering student engagement.
Palestine last event orientationfvgnh .pptxRaedMohamed3
An EFL lesson about the current events in Palestine. It is intended to be for intermediate students who wish to increase their listening skills through a short lesson in power point.
1. OMIM
Kishore Kr Gupta
Drosophila cytogenetics and Molecular Lab
Department of Zoology
VBU. Hazaribag
Jharkhand India
Online Mendelian Inheritance in Man
7. OMIM –Introduction
• Online Mendelian Inheritance in Man (OMIM) is a
continuously updated catalog of human genes
and genetic disorders and traits,
• Specifically focus on the gene-phenotype
relationship.
• By 28 June 2019,
• There are approximately 25000 entries of which
• 9,000 represented phenotypes;
• 16000 represented genes,
• Websites -https://www.omim.org
8. Continued
Content
Description Catalog of all known human genes and
genetic phenotypes.
Data types
captured
Genes, genetic disorders, phenotypic
traits
Organisms Homo sapiens
Contact
Research center Johns Hopkins University School of
Medicine
Primary citation PMID 21472891
Access
Website http://www.omim.org/
The current OMIM website (OMIM.org), which was developed with funding from
JHUSOM, is maintained by Johns Hopkins University with financial support from
the National Human Genome Research Institute
9. Features
1. 1960= Database was initiated i by Dr. Victor A. McKusick as a
catalog of mendelian traits and disorders, entitled Mendelian
Inheritance in Man (MIM).
2. OMIM is a comprehensive, authoritative compendium of
human genes and genetic phenotypes
3. It is freely available to users and updated daily.
4. OMIM is authored and edited at the McKusick-Nathans
Institute of Genetic Medicine, Johns Hopkins University School
of Medicine, under the direction of Dr. Ada Hamosh.
5. The entries provides copious links to other genetics resources.
6. 1966 and 1998. Twelve book editions of MIM were published
between
7. 1985 - The online version of OMIM, was created in
collaboration between the National Library of Medicine and the
William H. Welch Medical Library at Johns Hopkins
8. 1987-. Available on the internet.
9. 1995, OMIM was developed for the World Wide Web by NCBI,
the National Center for Biotechnology Information.
10. The content of MIM/OMIM is based on selection and review of
the published Peer reviewed biomedical literature.
Victor A. McKusick
(1921-2008)
founding father
of
medical genetics
10. Symbols preceding MIM numbers
• Symbols preceding MIM numbers indicate the entry category:
• An asterisk (*) before an entry number indicates a gene.
• A number symbol (#) before an entry number indicates that it is a
descriptive entry, usually of a phenotype, and does not represent a unique
locus.
• A plus sign (+) before an entry number indicates that the entry contains
the description of a gene of known sequence and a phenotype.
• A percent sign (%) before an entry number indicates that the entry
describes a confirmed Mendelian phenotype or phenotypic locus for
which the underlying molecular basis is not known.
• No symbol before an entry number generally indicates a description of a
phenotype for which the Mendelian basis, although suspected, has not
been clearly established or that the separateness of this phenotype from
that in another entry is unclear.
• A caret (^) before an entry number means the entry no longer exists
because it was removed from the database or moved to another entry as
indicated.
11. Advanced search of OMIM
• Online Mendelian Inheritance in Man (OMIM) RefSeqGene;
• All Genes & Expression Resources...
• Genetics & Medicine.
• Bookshelf;
• Database of Genotypes and Phenotypes (dbGaP)
• Genetic Testing Registry;
• Influenza Virus;
• Online Mendelian Inheritance in Man (OMIM) PubMed; PubMed
Central (PMC) PubMed Clinical Queries; RefSeqGene; All Genetics &
Medicine Resources... Genomes & Maps. Database of …
• Location: 8600 Rockville Pike, Bethesda, MD
• https://www.ncbi.nlm.nih.gov/omim/advanced
•
12. OMIM Entries & Classification system
MIM Number Prefix Autosomal
X
Linked Y Linked Mt Totals
Gene description * 15,480 743 51 37 16,311
Gene and phenotype,
combined +
35 0 0 0 35
Phenotype description,
molecular basis known #
5,454 345 5 33 5,837
Phenotype description or
locus, molecular basis
unknown %
1,420 117 4 0 1,541
Other, mainly phenotypes
with suspected mendelian
basis
1,667 103 3 0 1,773
Totals 24,056 1,308 63 70 25,497
13. Application
• The database may be used as a resource for
locating literature relevant to inherited
conditions.
• Numbering system is widely used in the
medical literature to provide a unified index
for genetic diseases.