Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes Journal Article

   

Authors:	Hart, S. N.; Maxwell, K. N.; Thomas, T.; Ravichandran, V.; Wubberhorst, B.; Klein, R. J.; Schrader, K.; Szabo, C.; Weitzel, J. N.; Neuhausen, S. L.; Nathanson, K.; Offit, K.; Couch, F. J.; Vijai, J.
Article Title:	Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes
Abstract:	The purpose of this article is to inform readers about technical challenges that we encountered when assembling exome sequencing data from the 'Simplifying Complex Exomes' (SIMPLEXO) consortium-whose mandate is the discovery of novel genes predisposing to breast and ovarian cancers. Our motivation is to share these obstacles-and our solutions to them-as a means of communicating important technical details that should be discussed early in projects involving massively parallel sequencing. © The Author 2015. Published by Oxford University Press.
Keywords:	genomics; exome
Journal Title:	Briefings in Bioinformatics
Volume:	17
Issue:	4
ISSN:	1467-5463
Publisher:	Oxford University Press
Date Published:	2016-07-01
Start Page:	672
End Page:	677
Language:	English
DOI:	10.1093/bib/bbv075
PROVIDER:	scopus
PMCID:	PMC4945829
PUBMED:	26358132
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-84991396777&partnerID=40&md5=17f0c9cbb6560aecb86566893bd0243d
Notes:	Article -- Export Date: 2 November 2016 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/100262