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Article

Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads.

Nature communications - 17 Feb 2021

Zhou Xin, Zhang Lu, Weng Ziming, Dill David L, Sidow Arend

Abstract excerpt

We introduce Aquila, a new approach to variant discovery in personal genomes, which is critical for uncovering the genetic contributions to health and disease. Aquila uses a reference sequence and linked-read data to generate a high quality diploid genome assembly, from which it then comprehensively detects and phases personal genetic variation. The contigs of the assemblies from our libraries cover >95% of the...

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Identifiers

PMID: 33597536
DOI: 10.1038/s41467-021-21395-x
PMCID: PMC7889865

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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