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National Center for Biotechnology Information

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The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information.

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national center for biotechnology information

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PubMed® comprises more than 36 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites.

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National Center for Biotechnology Information

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The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information.

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BLAST: Basic Local Alignment Search Tool

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The Basic Local Alignment Search Tool (BLAST) finds regions of local similarity between sequences. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families.

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The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution of genomic variation information and associated clinical variations. Endeavor to foster the development of the necessary methodology and informatics.

The Society is an Affiliate of the International Federation of Human Genetics Societies ( IFHGS) and also the Human Genome Organisation ( HUGO).

Human Mutation is the Society journal. Members will receive a reduced subscription to the journal if they choose to subscribe.

The Society generally runs two scientific meetings per year as satellites of the American or European Societies of Human Genetics annual meetings. The next meeting is in planning be held in June 2019, in Gothenburg Sweden, as a satellite of the ESHG (please follow links at right).

Members of the Society have published a number of papers in relation to human genome variation and in particular mutation databases. The Society maintains a substantial collection of links to mutation databases and has made recommendations for nomenclature of variations, and content of mutation databases. To join the Society and more information such as Board of Directors, Bylaws, Membership etc. click here.

Dear HGVS Membership and Supporting Community:

I am writing as HGVS President, a position I have held since 2012 after having first served on the Council. I want to provide an update on upcoming future important HGVS activities, current administrative issues regarding HGVS, and how these two items interact. To summarize briefly,

1) we have just completed a successful meeting in June, in Goteborg;

2) we have an opportunity to create more structure for our nomenclature activities, and

3) we need to have new elections for Council.

The Council and I appreciate the support of our membership and conference attendees over the years. Within the burgeoning activity in genetic variation science, the HGVS has established several critical roles:

Organizing academic meetings multiple academic aspects of variant science. We have especially been successful in the areas of pathogenicity and interpretation of genetic variants. We are expert at introducing and explaining the biology to the informaticists, and the informatics to the biologists. Over the years, as other groups have filled other niches, we have consistently attracted enthusiastic audiences to meetings that maintain high quality scientific rigor in the variant science field. We just enjoyed a successful meeting on Copy Number Variation, June 14, 2019, in Goteburg, Sweden, ahead of the ESHG meeting. The next meeting, on "Genotypes and Intermediate Phenotypes", is scheduled for Houston on Tuesday October 15, 2019, ahead of ASHG.

Developing and updating nomenclature to describe genetic variation, an activity that has been continuous since the inception of the society in 2001, led by the work of Johan den Dunnen from Leiden. The nomenclature field now has reached a point where it is imperative to establish widely recognized international standards, which will facilitate future clinical and research work on genetic variation. We are looking forward to taking the next steps in creating a sustainable system that establishes and supports nomenclature standards.

In recent years, for a variety of reasons, the administrative support for HGVS activity has diminished. Last year we did not have formal elections or a business meeting as the 2018 annual scientific meeting was cancelled when several speakers withdrew at a late date. The Council has remained stable and active throughout this time and has sustained activities supporting the roles described above. We need to come back into compliance with our Bylaws by having elections. This will offer opportunities to bring new voices into HGVS activities. Importantly, it also will put us in a position to codify a sustainable mechanism of maintaining nomenclature standards.

I am happy to stand again as a candidate for President, and Tony Brookes will stand again as Vice President. From the current Council, five members are stepping down after many years of supporting the activities of the HGVS: Alastair Brown, Bruce Gottlieb, Heidi Rehm, Shamil Sunyaev, Peter Taschner. We have identified five individuals who are interested in standing as new members on the Council:

Melissa Cline, UCSC

Raymond Dalgleish, Unviersity of Leicester

Johan den Dunnen, Leiden University

Rosemary Ekong, UCL, London

Nilah Ioannidis, University of California, Berkeley

Current Council members who are standing again for election are:

Christophe Beroud, Aix-Marseille Université

Steven Brenner, University of California, Berkeley

Andreas Hadjisavvas, Cyprus Institute of Neurology and Genetics

Rachel Karchin, Johns Hopkins University

Sean Mooney, University of Washington

C. Conover Talbot Jr., Johns Hopkins University

Since the HGVS developed from Dick Cotton's efforts to organize the geneticists and other participants in the mutation database field, we have seen tremendous advancements of his vision of organizing and analyzing genetic variant data to further human health. The research, commercial, and clinical genetics spheres are now heavily involved in "variant science" to a degree which Dick envisioned, and partially witnessed. The Council and those participating in meeting and nomenclature activities still perceive that within the rapidly growing variant science world, the HGVS fills a niche that no other group does, bringing together the "wholesale genomics" and "retail genetics" worlds in the realms of nomenclature development and academic exchange of information.

We look forward to your continued support.

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The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution of genomic variation information and associated clinical variations. Endeavor to foster the development of the necessary methodology and informatics.

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Submitter highlights

We gratefully acknowledge those who have submitted data and provided advice during the development of ClinVar.

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Disclaimer

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. NIH does not independently verify the submitted information. If you have questions about the information contained on this website, please see a health care professional. More information about NCBI's disclaimer policy is available.

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ClinVar archives and aggregates information about relationships among variation and human health.