Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

• 主要な著者: Praveen F. Cherukuri (著者), Melissa M. Soe (著者), David E. Condon (著者), Shubhi Bartaria (著者), Kaitlynn Meis (著者), Shaopeng Gu (著者), Frederick G. Frost (著者), Lindsay M. Fricke (著者), Krzysztof P. Lubieniecki (著者), Joanna M. Lubieniecka (著者), Robert E. Pyatt (著者), Catherine Hajek (著者), Cornelius F. Boerkoel (著者), Lynn Carmichael (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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 va...