Article
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Cell - 1 Sept 2022
Byrska-Bishop Marta, Evani Uday S, Zhao Xuefang, Basile Anna O, Abel Haley J, Regier Allison A, Corvelo André, Clarke Wayne E, Musunuri Rajeeva, Nagulapalli Kshithija, Fairley Susan, Runnels Alexi, Winterkorn Lara, Lowy Ernesto, Paul Flicek, Germer Soren, Brand Harrison, Hall Ira M, Talkowski Michael E, Narzisi Giuseppe, Zody Michael C
Abstract excerpt
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome sequencing (WGS) data consented for public distribution without access or use restrictions. The final, phase 3 release of the 1kGP included 2,504 unrelated samples from 26 populations and was based primarily on low-coverage WGS. Here, we present a high-coverage 3,202-sample WGS 1kGP resource, which now includes 602 complete trios,...
Topics
- Female
- Genome, Human
- High-Throughput Nucleotide Sequencing
- Humans
- INDEL Mutation
- Male
- Polymorphism, Single Nucleotide
- Whole Genome Sequencing