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2023.10.19

參考文獻(xiàn)

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2. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. Erratum for: Am J Hum Genet. 2016 Jun 2;98 (6):1067-1076. PMID: 27392081; PMCID: PMC5005465.

3. Hoskinson DC, Dubuc AM, Mason-Suares H. The current state of clinical interpretation of sequence variants. Curr Opin Genet Dev. 2017 Feb;42:33-39. doi: 10.1016/j.gde.2017.01.001. Epub 2017 Jan 31. PMID: 28157586; PMCID: PMC5446800.

4. Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 Jun;21(6):1267-1270. doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24. PMID: 31015575; PMCID: PMC6559819.

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