Article

StratoMod: Predicting sequencing and variant calling errors with interpretable machine learning

2024-04-18

Abstract excerpt

<title>Abstract</title> <p>Repetitive structures in the genome often lead to difficulty in accurately characterizing variation across a variety of sequencing technologies and variant detection methods. To address this, the Genome in a Bottle consortium maintains “stratification BED files” for error analysis in “difficult” regions such as homopolymers and segmental duplications. However, this strategy represents g...

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Literature Corpus work: 3478d64c-aada-5887-9939-d014b0bef613
DOI: 10.21203/rs.3.rs-2613736/v1

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