Platinum Pedigree Consortium Long-Read Sequencing

Platinum Pedigree Consortium includes whole genome sequencing of blood-derived DNA using five technologies on a 4-generation family. This is the CEPH-Utah (CEU) family 1463 and includes 4 grandparents from 1st generation, 2 parents from 2nd generation, 5 children from 3rd generation, 9 individuals from the 4th generation representing 2 branches of the 3rd generation, and their 2 additional parents. Family was not selected for disease, rather large size to study genetic transmission and human variation.Data available through dbGaP include raw sequence data: PacBio HiFi reads in unaligned BAM formats, Ultra-Long Oxford Nanopore (ONT) reads in FASTQ formats, Illumina sequencing, strand-seq and Element sequencing data in FASTQ format. Additionally, alignment files for HiFi reads mapped to the GRCh38 and CHM13v2.0 reference genomes, as well as de novo genome assemblies generated for this project are included.]]>
Inclusion Criteria:28 family members of CEPH-Utah (CEU) Kindred 1463 that provided consent for biobanking and underwent whole genome sequencingExclusion Criteria:Individuals under age 18For a detailed description of the ascertainment strategy and goals of the original CEPH/Utah project, see Dausset et al., 1990, PMID: 2184120.]]>
A description of the history of the CEPH consortium and study design are described in detail in Dausset et al., 1990, PMID: 2184120.]]>