Article
SMaSH: Sample matching using SNPs in humans.
BMC genomics - 30 Dec 2019
Westphal Maximillian, Frankhouser David, Sonzone Carmine, Shields Peter G, Yan Pearlly, Bundschuh Ralf
Abstract excerpt
BACKGROUND: 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...
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