Ontology highlight
ABSTRACT:
SUBMITTER: Coventry A
PROVIDER: S-EPMC3060603 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Coventry Alex A Bull-Otterson Lara M LM Liu Xiaoming X Clark Andrew G AG Maxwell Taylor J TJ Crosby Jacy J Hixson James E JE Rea Thomas J TJ Muzny Donna M DM Lewis Lora R LR Wheeler David A DA Sabo Aniko A Lusk Christine C Weiss Kenneth G KG Akbar Humeira H Cree Andrew A Hawes Alicia C AC Newsham Irene I Varghese Robin T RT Villasana Donna D Gross Shannon S Joshi Vandita V Santibanez Jireh J Morgan Margaret M Chang Kyle K Iv Walker Hale WH Templeton Alan R AR Boerwinkle Eric E Gibbs Richard R Sing Charles F CF
Nature communications 20101130
Accurately determining the distribution of rare variants is an important goal of human genetics, but resequencing of a sample large enough for this purpose has been unfeasible until now. Here, we applied Sanger sequencing of genomic PCR amplicons to resequence the diabetes-associated genes KCNJ11 and HHEX in 13,715 people (10,422 European Americans and 3,293 African Americans) and validated amplicons potentially harbouring rare variants using 454 pyrosequencing. We observed far more variation (e ...[more]