Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis

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dc.contributor.authorNiranjan, Tejasvi S
dc.contributor.authorAdamczyk, Abby
dc.contributor.authorBravo, Héctor Corrada
dc.contributor.authorTaub, Margaret A
dc.contributor.authorWheelan, Sarah J
dc.contributor.authorIrizarry, Rafael
dc.contributor.authorWang, Tao
dc.date.accessioned2021-11-02T13:30:45Z
dc.date.available2021-11-02T13:30:45Z
dc.date.issued2011-09-28
dc.description.abstractSequencing targeted DNA regions in large samples is necessary to discover the full spectrum of rare variants. We report an effective Illumina sequencing strategy utilizing pooled samples with novel quality (Srfim) and filtering (SERVIC4E) algorithms. We sequenced 24 exons in two cohorts of 480 samples each, identifying 47 coding variants, including 30 present once per cohort. Validation by Sanger sequencing revealed an excellent combination of sensitivity and specificity for variant detection in pooled samples of both cohorts as compared to publicly available algorithms.en_US
dc.description.urihttps://doi.org/10.1186/gb-2011-12-9-r93
dc.identifierhttps://doi.org/10.13016/x0ux-xtal
dc.identifier.citationNiranjan, T.S., Adamczyk, A., Bravo, H.C. et al. Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis. Genome Biol 12, R93 (2011).en_US
dc.identifier.urihttp://hdl.handle.net/1903/28086
dc.language.isoen_USen_US
dc.publisherSpringer Natureen_US
dc.relation.isAvailableAtCollege of Computer, Mathematical & Natural Sciencesen_us
dc.relation.isAvailableAtComputer Scienceen_us
dc.relation.isAvailableAtDigital Repository at the University of Marylanden_us
dc.relation.isAvailableAtUniversity of Maryland (College Park, MD)en_us
dc.subjectRare Varianten_US
dc.subjectVariant Callingen_US
dc.subjectVariant Callen_US
dc.subjectBase Callen_US
dc.subjectFalse Positive Callen_US
dc.titleEffective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysisen_US
dc.typeArticleen_US

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