The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Genome Medicine

卷:12

on behalf of the Medical Genome Initiative¹  Shashikant Kulkarni²  Heidi Rehm³  Christian R. Marshall⁴  David Bick⁵  John W. Belmont⁶  Stacie L. Taylor⁶  Hutton M. Kearney⁷  Vaidehi Jobanputra⁸  David Dimmock⁹  Euan Ashley¹⁰ 

[1] ;

[2] Baylor College of Medicine and Baylor Genetics;

[3] Broad Institute of MIT and Harvard;

[4] Genome Diagnostics, The Hospital for Sick Children;

[5] HudsonAlpha Institute for Biotechnology;

[6] Illumina Inc.;

[7] Mayo Clinic;

[8] New York Genome Center;

[9] Rady Children’s Institute for Genomic Medicine;

[10] Stanford Medicine Clinical Genomics Program, Stanford Health Care;

关键词: Clinical whole-genome sequencing;    Diagnostics;    Standards;    Rare genetic disease;   

DOI  :  10.1186/s13073-020-00748-z

来源: DOAJ

【 摘 要 】

Abstract Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.

【 授权许可】

Unknown