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Article

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads.

Nature methods - 1 Nov 2021

Shafin Kishwar, Pesout Trevor, Chang Pi-Chuan, Nattestad Maria, Kolesnikov Alexey, Goel Sidharth, Baid Gunjan, Kolmogorov Mikhail, Eizenga Jordan M, Miga Karen H, Carnevali Paolo, Jain Miten, Carroll Andrew, Paten Benedict

Abstract excerpt

Long-read sequencing has the potential to transform variant detection by reaching currently difficult-to-map regions and routinely linking together adjacent variations to enable read-based phasing. Third-generation nanopore sequence data have demonstrated a long read length, but current interpretation methods for their novel pore-based signal have unique error profiles, making accurate analysis challenging. Here,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 34725481
DOI: 10.1038/s41592-021-01299-w
PMCID: PMC8571015

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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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