Quality control of large genome datasets.

ABSTRACT: The 1000 Genomes Project (TGP) is a foundational resource that serves the biomedical community as a standard reference cohort for human genetic variation. There are now seven public versions of these genomes. The TGP Consortium produced the first by mapping its final data release against human reference sequence GRCh37, then "lifted over" these genomes to the improved reference sequence (GRCh38) when it was released, and remapped the original data to GRCh38 with two similar pipelines. As best-practice quality validation, the pipelines that generated these versions were benchmarked against the Genome In A Bottle Consortium's "platinum quality" genome (NA12878). The New York Genome Center recently released the results of independently resequencing the cohort at greater depth (30×), a phased

SUBMITTER: Robinson M 

PROVIDER: S-EPMC9250042 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature