Article
Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data.
PloS one - 1 Jan 2022
Mizrahi-Man Orna, Woehrmann Marcos H, Webster Teresa A, Gollub Jeremy, Bivol Adrian, Keeble Sara M, Aull Katherine H, Mittal Anuradha, Roter Alan H, Wong Brant A, Schmidt Jeanette P
Abstract excerpt
The UK Biobank genotyped about 500k participants using Applied Biosystems Axiom microarrays. Participants were subsequently sequenced by the UK Biobank Exome Sequencing Consortium. Axiom genotyping was highly accurate in comparison to sequencing results, for almost 100,000 variants both directly genotyped on the UK Biobank Axiom array and via whole exome sequencing. However, in a study using the exome sequencing...
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