A Novel Quality-Control Procedure to Improve the Accuracy of Rare Variant Calling in SNP Arrays

Autor: Ting-Hsuan Sun, Yu-Hsuan Joni Shao, Chien-Lin Mao, Miao-Neng Hung, Yi-Yun Lo, Tai-Ming Ko, Tzu-Hung Hsiao
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Frontiers in Genetics, Vol 12 (2021)
Druh dokumentu: article
ISSN: 1664-8021
DOI: 10.3389/fgene.2021.736390
Popis: Background: Single-nucleotide polymorphism (SNP) arrays are an ideal technology for genotyping genetic variants in mass screening. However, using SNP arrays to detect rare variants [with a minor allele frequency (MAF) of 10,000 are available. The results demonstrated our procedure could perform correct genotype calling of rare variants. It provides a solution of pathogenic variant detection through SNP array. The approach brings tremendous promise for implementing precision medicine in medical practice.
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