Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome seque...
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Clinical use of genotype data requires high positive predictive value (PPV) and thorough understanding of the genotyping platform characteristics. BeadChip arrays, such as the Global Screening Array (GSA), potentially offer a high-throughput, low-cost clinical screen for known variants. We hypothesize that quality assessment and comparison to whole...
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Full title
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets
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TN_cdi_doaj_primary_oai_doaj_org_article_bd22b094b3d44ee8b4105e369acbce00
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bd22b094b3d44ee8b4105e369acbce00
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-022-01199-8
