From genomic medicine to precision medicine: highlights of 2015-Reference-Cited by-同舟云学术

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From genomic medicine to precision medicine: highlights of 2015

Published:2016-01-29 Issue:1 Volume:8 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Auffray Charles,Caulfield Timothy,Griffin Julian L.,Khoury Muin J.,Lupski James R.,Schwab Matthias

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-016-0265-4

Reference39 articles.

1. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8.

2. Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015;47:1363–9.

3. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. 2015;97:199–215.

4. Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, et al. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med. 2015;7:100.

5. Smedley D, Robinson PN. Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. Genome Med. 2015;7:81.

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