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Exome and genome analysis as a tool for disease identification and treatment: the 2011 Human Genome Variation Society scientific meeting.

Human mutation - 1 Mar 2012

Oetting William S

Abstract excerpt

The 2011 annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 11th of October, in Montreal, Canada. The theme of this meeting was "Exome and Genome Analysis as a Tool for Disease Identification and Treatment." In the last few years, there has been a substantial increase in the use of next-generation sequencing in identifying variants associated with both single-gene disorders and...

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PMID: 22213110
DOI: 10.1002/humu.22018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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