Work

InSiGHT leads in the implementation of the Human Variome Project

Year: 2011

Type: conference-abstract

Abstract: Background With next gen sequencing, the human genome can be sequenced in a few weeks and for a few thousand dollars. Capability is no longer the issue: interpretation is. Assembling information to assist in interpreting the consequences of all base pair changes is the mission of the Human Variome Project (HVP). InSiGHT has collaborated with the HVP, and now, due its coherence and international organization, maintains a Locus Specific Database which is seen as an exemplar for the unfolding of the HVP across the whole genome.

Source: Hereditary Cancer in Clinical Practice

DOI: 10.1186/1897-4287-9-s1-p23

Authors: Finlay Macrae, Gabriela Moslein, Richard Cotton, Rolf Sijmons, Johan den Dunnen, Michael Woods, Sean Tavtigian, Mark Jenkins, Robert Hofstra, Robert Haile

Institutions: The University of Melbourne, International Society for Gastrointestinal Hereditary Tumours, St. Josef-Hospital, University Medical Center Groningen, Leiden University Medical Center, Memorial University of Newfoundland, Huntsman Cancer Institute, University of Southern California

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $2,690

OpenAlex ID: W1979371024

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