Identification of missing variants by combining multiple analytic pipelines
Identification of missing variants by combining multiple analytic pipelines
About this item
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Author / Creator
Ren, Yingxue , Reddy, Joseph S. , Pottier, Cyril , Sarangi, Vivekananda , Tian, Shulan , Sinnwell, Jason P. , McDonnell, Shannon K. , Biernacka, Joanna M. , Carrasquillo, Minerva M. , Ross, Owen A. , Ertekin-Taner, Nilüfer , Rademakers, Rosa , Hudson, Matthew , Mainzer, Liudmila Sergeevna and Asmann, Yan W.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to sequencing-based rare variants discovery. This requires large sample sizes for statistical power and has brought up questions about whether the current variant calling practices are adequate for lar...
Alternative Titles
Full title
Identification of missing variants by combining multiple analytic pipelines
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_b1a9fac1162a4974805bb9c441d8f557
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b1a9fac1162a4974805bb9c441d8f557
Other Identifiers
ISSN
1471-2105
E-ISSN
1471-2105
DOI
10.1186/s12859-018-2151-0
