The sequences of 150,119 genomes in the UK Biobank
Reykjavík University · deCODE Genetics (Iceland) · +16 more institutions
Abstract
Abstract Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data 1,2 . Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank 3 . This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants…
Citation impact
- FWCI
- 91.90
- Percentile
- 100%
- References
- 94
Authors
79Topics & keywords
- 1000 Genomes Project
- Genetics
- Biology
- Whole genome sequencing
- Genome
- Imputation (statistics)
- Reference genome
- Exome sequencing
- Life in Land