Genome Sequencing of Large, Multigenerational CEPH/Utah Families
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001872.v1.p1
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Blood-derived DNA samples were collected from 603 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).]]>
CEPH/Utah families were ascertained to maximize family size. For a detailed description of the ascertainment strategy and goals of the original CEPH/Utah project, see Dausset, J., H. Cann, D. Cohen, M. Lathrop, J. M. Lalouel, and R. White. 1990. "Centre D'etude Du Polymorphisme Humain (CEPH): Collaborative Genetic Mapping of the Human Genome." Genomics 6 (3): 575-77. PMID: 2184120.]]>
A description of the history of the CEPH consortium and study design are described in detail in Dausset, J., H. Cann, D. Cohen, M. Lathrop, J. M. Lalouel, and R. White. 1990. "Centre D'etude Du Polymorphisme Humain (CEPH): Collaborative Genetic Mapping of the Human Genome." Genomics 6 (3): 575-77.PMID: 2184120.]]>
创建时间：
2019-08-06
