Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases-Reference-Cited by-同舟云学术

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases

Published:2016-08-25 Issue:10 Volume:16 Page:1073-1082
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Bacchelli Chiara,Williams Hywel J.

Funder

National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

http://www.tandfonline.com/doi/pdf/10.1080/14737159.2016.1222906

Reference55 articles.

1. FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

2. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

3. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

4. Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases

5. Structural Variation in the Human Genome and its Role in Disease

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