Consanguinity in Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees.

ABSTRACT: A set of Centre d'Étude du Polymorphisme Humain (CEPH) cell lines serves as a large reference collection that has been widely used as a benchmark for allele frequencies in the analysis of genetic variants, to create linkage maps of the human genome, to study the genetics of gene expression, to provide samples to the HapMap and 1000 Genomes projects, and for a variety of other applications. An explicit feature of the CEPH collection is that these multigenerational families represent reference panels of known relatedness, consisting mostly of three-generation pedigrees with large sibships, two parents, and grandparents. We applied identity-by-state (IBS) and identity-by-descent (IBD) methods to high-density genotype data from 186 CEPH individuals in 13 families. We identified unexpected rela

SUBMITTER: Stevens EL 

PROVIDER: S-EPMC3355261 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature