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

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....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919546/
https://www.ncbi.nlm.nih.gov/pubmed/35287663
http://dx.doi.org/10.1186/s12920-022-01199-8

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