Article
Generative haplotype prediction outperforms statistical methods for small variant detection in next-generation sequencing data.
Bioinformatics (Oxford, England) - 1 Nov 2024
O'Fallon Brendan, Bolia Ashini, Durtschi Jacob, Yang Luobin, Fredrickson Eric, Best Hunter
Abstract excerpt
MOTIVATION: Detection of germline variants in next-generation sequencing data is an essential component of modern genomics analysis. Variant detection tools typically rely on statistical algorithms such as de Bruijn graphs or Hidden Markov models, and are often coupled with heuristic techniques and thresholds to maximize accuracy. Despite significant progress in recent years, current methods still generate...
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