欧美日韩国产成人高清_日韩无码高清视频等最新内容!_av免费在线看丁香五月_三级电影免费网站_舌头伸进去添的我好爽高潮欧美_亚洲国产精品无码之99re_久久久这里只有精品加勒比_2021年免费无码片在线观看_国产免费一区二区三区vr_亚洲日本欧美国产在线视

達瑞動態(tài)
達瑞動態(tài)
DARUI NEWS
本周話題 | 遺傳病診斷中變異解讀不一致的原因及解決方案
加載中...
2023.10.19

參考文獻

1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753.

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.

5. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153. PMID: 29165669; PMCID: PMC5753237.

6. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. PMID: 26014595; PMCID: PMC4474187.
 

 

Copyright ? 2023 廣州市達瑞生物技術股份有限公司 粵ICP備2021150054號

Powered by vancheer