Identification of clinically actionable variants from genome sequencing of families with congenital heart disease-Reference-Cited by-同舟云学术

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Published:2019-05 Issue:5 Volume:21 Page:1111-1120
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Alankarage Dimuthu,Ip Eddie,Szot Justin O.,Munro Jacob,Blue Gillian M.,Harrison Katrina,Cuny Hartmut,Enriquez Annabelle,Troup Michael,Humphreys David T.,Wilson Meredith,Harvey Richard P.,Sholler Gary F.,Graham Robert M.,Ho Joshua W.K.,Kirk Edwin P.,Pachter Nicholas,Chapman Gavin,Winlaw David S.,Giannoulatou Eleni,Dunwoodie Sally L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0296-x.pdf

Reference40 articles.

1. Stavropoulos DJ, Merico D, Jobling R, et al. Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genom Med. 2016; 1:1-9.

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