CoVaCS: a consensus variant calling system-Reference-Cited by-同舟云学术

CoVaCS: a consensus variant calling system

Published:2018-02-05 Issue:1 Volume:19 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Chiara Matteo,Gioiosa Silvia,Chillemi Giovanni,D’Antonio Mattia,Flati Tiziano,Picardi Ernesto,Zambelli Federico,Horner David Stephen,Pesole Graziano^ORCID,Castrignanò Tiziana

Funder

Ministero dell’Istruzione, dell’Università e della Ricerca

Horizon 2020

Regione Puglia

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

http://link.springer.com/content/pdf/10.1186/s12864-018-4508-1.pdf

Reference38 articles.

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3. Stranneheim H, Wedell A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. J Intern Med. 2016;279(1):3–15.

4. UK10K Consortium. (2015). The UK10K project identifies rare variants in health and disease. Nature. 1;526(7571):82–90.

5. Talenti A, Pierce LCT, Biggs WH, et al. Deep sequencing of 10,000 human genomes. Proc Natl Acad Sci U S A. 2016;113(42):11901–6.

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