A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India-Reference-Cited by-同舟云学术

A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India

Published:2018-02-08 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Hariharan Nivedita^ORCID,Ravi Samathmika,Pradeep Bulagonda Eswarappa,Subramanyam Koushik Narayan,Choudhary Bibha,Srinivasan Subhashini,Khanchandani Prakash

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201761.pdf

Reference18 articles.

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4. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297–1303.

5. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491–498.

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