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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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Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: 2014
נושאים:
גישה מקוונת: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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