Year: 2020
Type: article
Abstract: The UK Biobank is an unprecedented resource for human disease research. In March 2019, 49,997 exomes were made publicly available to investigators. Here we note that thousands of variant calls are unexpectedly absent from this dataset, with 641 genes showing zero variation. We show that the reason for this was an erroneous read alignment to the GRCh38 reference. The missing variants can be recovered by modifying read alignment parameters to correctly handle the expanded set of contigs available in the human genome reference. Given the size and complexity of such population scale datasets, we propose a simple heuristic that can uncover systematic errors using summary data accessible to most investigators.
Source: Annals of Human Genetics
DOI: 10.1111/ahg.12383
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Awards: Combining experiments of man and nature to target human insulin resistance, G2252103285, G267171958, G2898305521, Cytoscape: A Modeling Platform for Biomolecular Networks, UK Biobank (core renewal), Prospective Functional Characterization of All Possible Missense Variants in HNF1A, G598865872, G6331392353, Center for Genetic Studies of Drug Abuse in Outbred Rats, Child Growth and development, G887292057, Making sense of sequence - high throughput experiments in human adipocytes, Diabetes Research Center (DRC)
OpenAlex ID: W3013142018