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Article

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.

Genome biology - 8 Apr 2026

Eveleigh Robert J M, Reiling Sarah J, Galvez Jose Hector, Bourgey Mathieu, Ragoussis Jiannis, Bourque Guillaume

Abstract excerpt

BACKGROUND: Advances in sequencing technologies continue to improve the resolution and completeness with which human genetic variation can be characterized. Short-read sequencing remains widely used due to its high base accuracy, throughput, and cost efficiency; however, its limited ability to resolve repetitive and structurally complex regions has accelerated adoption of long-read sequencing platforms, including...

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Identifiers

PMID: 41952156
DOI: 10.1186/s13059-026-04048-4
PMCID: PMC13072666

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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