| Literature DB >> 32175479 |
Ernesto Lowy-Gallego1, Susan Fairley1, Xiangqun Zheng-Bradley1, Magali Ruffier1, Laura Clarke1, Paul Flicek1.
Abstract
We present biallelic SNVs called from 2,548 samples across 26 populations from the 1000 Genomes Project, called directly on GRCh38. We believe this will be a useful reference resource for those using GRCh38, representing an improvement over the "lift-overs" of the 1000 Genomes Project data that have been available to date and providing a resource necessary for the full adoption of GRCh38 by the community. Here, we describe how the call set was created and provide benchmarking data describing how our call set compares to that produced by the final phase of the 1000 Genomes Project on GRCh37. Copyright:Entities:
Keywords: Genomics; population genetics; single nucleotide variation; variant calling; variant discovery
Year: 2019 PMID: 32175479 PMCID: PMC7059836 DOI: 10.12688/wellcomeopenres.15126.1
Source DB: PubMed Journal: Wellcome Open Res ISSN: 2398-502X