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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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2014
Teme:
Online pristup: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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