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

Ting Hsuan Sun, Yu Hsuan Joni Shao, Chien Lin Mao, Miao Neng Hung, Yi Yun Lo, Tai Ming Ko, Tzu Hung Hsiao

研究成果: 雜誌貢獻回顧型文獻同行評審

2 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
文章編號736390
期刊Frontiers in Genetics
12
DOIs
出版狀態已發佈 - 10月 2021

ASJC Scopus subject areas

  • 分子醫學
  • 遺傳學
  • 遺傳學(臨床)

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