Article
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Nature genetics - 1 Nov 2013
Flannick Jason, Beer Nicola L, Bick Alexander G, Agarwala Vineeta, Molnes Janne, Gupta Namrata, Burtt Noël P, Florez Jose C, Meigs James B, Taylor Herman, Lyssenko Valeriya, Irgens Henrik, Fox Ervin, Burslem Frank, Johansson Stefan, Brosnan M Julia, Trimmer Jeff K, Newton-Cheh Christopher, Tuomi Tiinamaija, Molven Anders, Wilson James G, O'Donnell Christopher J, Kathiresan Sekar, Hirschhorn Joel N, Njølstad Pål R, Rolph Tim, Seidman J G, Gabriel Stacey, Cox David R, Seidman Christine E, Groop Leif, Altshuler David
Abstract excerpt
Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders and who may consequently have increased disease risk. Previous studies of rare variants in phenotypically extreme individuals display ascertainment bias and may demonstrate inflated effect-size estimates. We sequenced seven genes for maturity-onset diabetes of the young (MODY) in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.