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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

American journal of human genetics - 6 Feb 2025

Negi Shloka, Stenton Sarah L, Berger Seth I, Canigiula Paolo, McNulty Brandy, Violich Ivo, Gardner Joshua, Hillaker Todd, O'Rourke Sara M, O'Leary Melanie C, Carbonell Elizabeth, Austin-Tse Christina, Lemire Gabrielle, Serrano Jillian, Mangilog Brian, VanNoy Grace, Kolmogorov Mikhail, Vilain Eric, O'Donnell-Luria Anne, Délot Emmanuèle, Miga Karen H, Monlong Jean, Paten Benedict

Abstract excerpt

More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a...

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DNA Methylation
Genome, Human
Haplotypes
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nanopore Sequencing

Sequence Analysis, DNA

Whole Genome Sequencing

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Identifiers

PMID: 39862869
DOI: 10.1016/j.ajhg.2025.01.002
PMCID: PMC11866955

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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