OVARIAN CANCER and US: rare genetic mutations

Blog Archives: Nov 2004 - present

#ovariancancers



Special items: Ovarian Cancer and Us blog best viewed in Firefox

Search This Blog

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