Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
复制标题
用于生殖系疾病诊断的临床全基因组测序分析验证的最佳实践。
DOI：
10.1038/s41525-020-00154-9
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发表时间：
2020
影响因子：
5.3
通讯作者：
Medical Genome Initiative
中科院分区：
文献类型：
--
作者：
Marshall CR;Chowdhury S;Taft RJ;Lebo MS;Buchan JG;Harrison SM;Rowsey R;Klee EW;Liu P;Worthey EA;Jobanputra V;Dimmock D;Kearney HM;Bick D;Kulkarni S;Taylor SL;Belmont JW;Stavropoulos DJ;Lennon NJ;Medical Genome Initiative
Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders; however, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading healthcare and research organizations in the US and Canada, was formed to expand access to high-quality clinical WGS by publishing best practices. Here, we present consensus recommendations on clinical WGS analytical validation for the diagnosis of individuals with suspected germline disease with a focus on test development, upfront considerations for test design, test validation practices, and metrics to monitor test performance. This work also provides insight into the current state of WGS testing at each member institution, including the utilization of reference and other standards across sites. Importantly, members of this initiative strongly believe that clinical WGS is an appropriate first-tier test for patients with rare genetic disorders, and at minimum is ready to replace chromosomal microarray analysis and whole-exome sequencing. The recommendations presented here should reduce the burden on laboratories introducing WGS into clinical practice, and support safe and effective WGS testing for diagnosis of germline disease.
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影响因子：
1.7
作者：
Gullapalli RR;Lyons-Weiler M;Petrosko P;Dhir R;Becich MJ;LaFramboise WA
通讯作者：
LaFramboise WA
DOI：
10.1016/j.jmoldx.2017.01.011
发表时间：
2017-05
期刊：
The Journal of molecular diagnostics : JMD
影响因子：
--
作者：
Jennings LJ;Arcila ME;Corless C;Kamel-Reid S;Lubin IM;Pfeifer J;Temple-Smolkin RL;Voelkerding KV;Nikiforova MN
通讯作者：
Nikiforova MN
影响因子：
4
作者：
Boycott K;Hartley T;Adam S;Bernier F;Chong K;Fernandez BA;Friedman JM;Geraghty MT;Hume S;Knoppers BM;Laberge AM;Majewski J;Mendoza-Londono R;Meyn MS;Michaud JL;Nelson TN;Richer J;Sadikovic B;Skidmore DL;Stockley T;Taylor S;van Karnebeek C;Zawati MH;Lauzon J;Armour CM;Canadian College of Medical Geneticists
通讯作者：
Canadian College of Medical Geneticists
影响因子：
4.6
作者：
Aziz, Nazneen;Zhao, Qin;Voelkerding, Karl V.
通讯作者：
Voelkerding, Karl V.
影响因子：
7
作者：
Eberle, Michael A.;Fritzilas, Epameinondas;Bentley, David R.
通讯作者：
Bentley, David R.