Reducing false positive incidental findings with ensemble genotyping and logistic regression-based variant filtering methods

As whole genome sequencing (WGS) uncovers variants associated with rare and common diseases, an immediate challenge is to minimize false positive findings due to sequencing and variant calling errors. False positives can be reduced by combining results from orthogonal sequencing methods, but costly....

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Autori principali: Hwang, Kyu-Baek, Lee, In-Hee, Park, Jin-Ho, Hambuch, Tina, Choi, Yongjoon, Kim, MinHyeok, Lee, Kyungjoon, Song, Taemin, Neu, Matthew B., Gupta, Neha, Kohane, Isaac S., Green, Robert C., Kong, Sek Won
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4112476/
https://ncbi.nlm.nih.gov/pubmed/24829188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22587
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