Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data

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 gen...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671364/
https://www.ncbi.nlm.nih.gov/pubmed/36395175
http://dx.doi.org/10.1371/journal.pone.0277680

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