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Identification of missing variants by combining multiple analytic pipelines

BACKGROUND: 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 whet...

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Bibliographic Details
Published in:BMC Bioinformatics
Main Authors: 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, Asmann, Yan W.
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5902939/
https://ncbi.nlm.nih.gov/pubmed/29661148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2151-0
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