Article

Jovian enables direct inference of germline haplotypes from short reads via sequence-to-sequence modeling

2022-09-14

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, Hidden Markov Models and regression models, often coupled with heuristic techniques and thresholds to identify variants. Here we describe a new approach that replaces these handcrafted statistical methods...

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Literature Corpus work: 651094a9-be4d-5823-8420-47e3be3fc032
DOI: 10.1101/2022.09.12.506413

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