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Article

Local read haplotagging enables accurate long-read small variant calling.

Nature communications - 13 Jul 2024

Kolesnikov Alexey, Cook Daniel, Nattestad Maria, Brambrink Lucas, McNulty Brandy, Gorzynski John, Goenka Sneha, Ashley Euan A, Jain Miten, Miga Karen H, Paten Benedict, Chang Pi-Chuan, Carroll Andrew, Shafin Kishwar

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...

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Share to Algorithms
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Haplotypes

Share to High-Throughput Nucleotide Sequencing

Share to Neural Networks, Computer

Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

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Identifiers

PMID: 39003259
DOI: 10.1038/s41467-024-50079-5
PMCID: PMC11246426

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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