Showing posts with label rare genetic mutations. Show all posts
Showing posts with label rare genetic mutations. Show all posts
Thursday, August 26, 2010
New Whitehead Fellow on the Hunt for Rare Genetic Mutations
New Whitehead Fellow on the Hunt for Rare Genetic Mutations
"As Whitehead Institute’s newest Fellow, Yaniv Erlich comes to Cambridge in search of needles in very large haystacks.In Erlich’s case, the needles are rare genetic variants or mutations occurring in individual human genomes. His quest is born of the growing realization that large-scale genome sequencing projects—genome-wide association studies (GWAS)—are failing to pinpoint genetic causes of common diseases. Indeed, mounting evidence suggests that the common genetic mutations that GWASs have surfaced reveal little about disease manifestation and inheritance risk.
It now appears that rare variants are behind many diseases, prompting the development of the so-called common disease-rare variant hypothesis...."cont'd
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genome
,
rare genetic mutations
,
unclassified variants
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