Article

Generative Haplotype Prediction Outperforms Statistical Methods for Small Variant Detection in NGS Data

2024-03-01

Abstract excerpt

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. Here, we introduce a new approach that replaces these handcrafted statistical techniques with a...

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Literature Corpus work: ecd25f2c-b0b4-513b-925e-8aae65768083
DOI: 10.1101/2024.02.27.582327

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