Article
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.
BMC medical genomics - 14 Mar 2022
Cherukuri Praveen F, Soe Melissa M, Condon David E, Bartaria Shubhi, Meis Kaitlynn, Gu Shaopeng, Frost Frederick G, Fricke Lindsay M, Lubieniecki Krzysztof P, Lubieniecka Joanna M, Pyatt Robert E, Hajek Catherine, Boerkoel Cornelius F, Carmichael Lynn
Abstract excerpt
BACKGROUND: 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-genome sequence and benchmark data establish the...
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