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Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

作者信息

Weck Karen E

机构信息

Department of Pathology and Laboratory Medicine, Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.

出版信息

Genet Med. 2018 Mar;20(3):291-293. doi: 10.1038/gim.2017.269. Epub 2018 Feb 1.

DOI:10.1038/gim.2017.269
PMID:29388946
Abstract
摘要

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Variant Interpretation: Functional Assays to the Rescue.
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Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20.
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How Functional Genomics Can Keep Pace With VUS Identification.功能基因组学如何跟上意义未明变异（VUS）识别的步伐。
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Genes (Basel). 2021 Dec 23;13(1):27. doi: 10.3390/genes13010027.
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