Genome Sequencing of Large, Multigenerational CEPH/Utah Families

Blood-derived DNA samples were collected from 597 members of large, multigenerational families, collected as part of the Centre d'Etude du Polymorphisme Humain (CEPH) consortium. These DNA samples were sequenced (using Illumina HiSeq technology) to a median genome-wide depth of 30X. Sequenced reads from each individual were aligned to the human reference genome (hg19), generating CRAM files for each individual. Variant calls in VCF format were obtained using the Genome Analysis Toolkit (GATK). Blood and saliva-derived DNA samples were collected from 287 additional members of the fourth generation and their additional parent and sequenced using Illumina HiSeq technology through the Center for Inherited Disease Research (CIDR). In total, this data set includes WGS data on 884 individuals... (for more see dbGaP study page.)