SMaSH: Sample matching using SNPs in humans.
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ABSTRACT:
SUBMITTER: Westphal M
PROVIDER: S-EPMC6936078 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
SMaSH: Sample matching using SNPs in humans.
Westphal Maximillian M Frankhouser David D Sonzone Carmine C Shields Peter G PG Yan Pearlly P Bundschuh Ralf R
BMC genomics 20191230 Suppl 12
<h4>Background</h4>Inadvertent sample swaps are a real threat to data quality in any medium to large scale omics studies. While matches between samples from the same individual can in principle be identified from a few well characterized single nucleotide polymorphisms (SNPs), omics data types often only provide low to moderate coverage, thus requiring integration of evidence from a large number of SNPs to determine if two samples derive from the same individual or not.<h4>Methods</h4>We select ...[more]
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