A variant by any name: quantifying annotation discordance across tools and clinical databases-Reference-Cited by-同舟云学术

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A variant by any name: quantifying annotation discordance across tools and clinical databases

Published:2017-01-26 Issue:1 Volume:9 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Yen Jennifer L.,Garcia Sarah,Montana Aldrin,Harris Jason,Chervitz Stephen,Morra Massimo,West John,Chen Richard,Church Deanna M.

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13073-016-0396-7.pdf

Reference47 articles.

1. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nat. 2016;536:285–91.

2. Chakravarti A, Donnelly P, Eichler EE, Korbel J, Lehrach H, Marth GT, et al. A global reference for human genetic variation. Nat. 2015;526:68–74.

3. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15:7–12.

4. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 1998;11:1–3.

5. Kapustin Y, Souvorov A, Tatusova T, Lipman D. Splign: algorithms for computing spliced alignments with identification of paralogs. Biol Direct. 2008;3:20–13.

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