Article

Local read haplotagging enables accurate long-read small variant calling

2023-09-12

Abstract excerpt

Long-read sequencing technology has enabled variant detection in difficult-to-map regions of the genome and enabled rapid genetic diagnosis in clinical settings. Rapidly evolving third-generation sequencing platforms like Pacific Biosciences (PacBio) and Oxford nanopore technologies (ONT) are introducing newer platforms and data types. It has been demonstrated that variant calling methods based on deep neural netw...

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Literature Corpus work: c898d1a7-451e-5940-9d9c-ff8a306b7323
DOI: 10.1101/2023.09.07.556731

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