INDELseek: detection of complex insertions and deletions from next-generation sequencing data-Reference-Cited by-同舟云学术

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INDELseek: detection of complex insertions and deletions from next-generation sequencing data

Published:2017-01-05 Issue:1 Volume:18 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Au Chun Hang,Leung Anskar Y. H.,Kwong Ava,Chan Tsun Leung,Ma Edmond S. K.

Funder

Hong Kong Hereditary Breast Cancer Family Registry

Dr. Ellen Li Charitable Foundation

S K Yee Medical Foundation

Li Shu Fan Medical Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

http://link.springer.com/content/pdf/10.1186/s12864-016-3449-9.pdf

Reference26 articles.

1. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15(1):7–12.

2. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606–9.

3. Ye K, Wang J, Jayasinghe R, Lameijer E, McMichael JF, Ning J, et al. Systematic discovery of complex insertions and deletions in human cancers. Nat Med. 2016;22(1):97–104.

4. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91.

5. Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379–90.

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