Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.

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作者： Kevin M,Bowling ^[1] ; Michelle L,Thompson ^[1] ; David E,Gray ^[1] ; James M J,Lawlor ^[1] ; Kelly,Williams ^[1] ; Kelly M,East ^[1] ; Whitley V,Kelley ^[1] ; Irene P,Moss ^[2] ; Devin M,Absher ^[1] ; E Christopher,Partridge ^[1] ; Anna C E,Hurst ^[2] ; Jeffrey C,Edberg ^[2] ; Gregory S,Barsh ^[1] ; Bruce R,Korf ^[2] ; Gregory M,Cooper ^[3]

作者单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA. ^[1] The University of Alabama at Birmingham, Birmingham, AL, USA. ^[2] HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA. gcooper@hudsonalpha.org. ^[3]

关键词 clinically actionable diverse population false positive genotyping array population screening

主题词亚拉巴马(Alabama);基因检测(Genetic Testing);遗传变异(Genetic Variation);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans)

DOI 10.1038/s41436-020-00976-z

PMID 32989269

发布时间 2022-02-10

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