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Local read haplotagging enables accurate long-read small variant calling

Kolesnikov, A.; Cook, D. E.; Nattestad, M.; Ashley, E. A.; Gorzynski, J.; Goenka, S. D.; Jain, M.; McNulty, B.; Miga, K. H.; Paten, B.; Chang, P.-C.; Carroll, A.; Shafin, K.

2023-09-12 bioinformatics
10.1101/2023.09.07.556731 bioRxiv
Show abstract

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 networks can use local haplotyping information with long-reads to improve the genotyping accuracy. However, using local haplotype information creates an overhead as variant calling needs to be performed multiple times which ultimately makes it difficult to extend to new data types and platforms as they get introduced. In this work, we have developed a local haplotype approximate method that enables state-of-the-art variant calling performance with multiple sequencing platforms including PacBio Revio system, ONT R10.4 simplex and duplex data. This addition of local haplotype approximation makes DeepVariant a universal variant calling solution for long-read sequencing platforms.

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