Ximmer: a system for improving accuracy and consistency of CNV calling from exome data-Reference-Cited by-同舟云学术

Ximmer: a system for improving accuracy and consistency of CNV calling from exome data

Published:2018-09-06 Issue:10 Volume:7 Page:
ISSN:2047-217X
Container-title:GigaScience
language:en
Short-container-title:

Author:

Sadedin Simon P¹²^ORCID,Ellis Justine A³⁴⁵,Masters Seth L⁶,Oshlack Alicia¹⁷^ORCID

Affiliation:

1. Bioinformatics, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia

2. Victorian Clinical Genetics Services, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia

3. Genes Environment & Complex Disease, Murdoch Children's Research Institute, Royal Children's Hospital Flemington Road, Parkville, Victoria 3052 Australia

4. Department of Paediatrics, University of Melbourne, Victoria 3010 Australia

5. Centre for Social and Early Emotional Development, Faculty of Health, Deakin University, Burwood, Victoria 3125 Australia

6. Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia

7. Department of BioScience, University of Melbourne, Parkville 3050, Australia

Funder

National Health and Medical Research Council, Australia

Publisher

Oxford University Press (OUP)

Subject

Computer Science Applications,Health Informatics

Link

http://academic.oup.com/gigascience/article-pdf/7/10/giy112/25991154/giy112.pdf

Reference31 articles.

1. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders;Stark;Genet Med,2016

2. Exome sequencing greatly expedites the progressive research of Mendelian diseases;Zhang;Front Med,2014

3. Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV;Sathirapongsasuti;Bioinformatics,2011

4. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling;Plagnol;Bioinformatics,2012

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