Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.

doi:10.1016/j.ajhg.2026.04.001

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Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.

American journal of human genetics - 7 May 2026

Devaney Joseph M, Chong Jessica X, Lopes Patricia C, Noya Jessica, Berlyoung April S, Yusuff Shamila, Lynch Solomon, Brandon Rhonda, Hruska Kathleen S, Lochovsky Lucas, Spangler Julianna, McWalter Kirsty, Nykamp Keith, Poll Sarah R, Stergachis Andrew B, Greally John, Kruszka Paul, Dolzhenko Egor, Chen Xiao, Robertson Alexander V, Rowell William J, Lake Juniper A, Carroll Andrew, Kueffner Robert, Eberle Michael A, Facio Flavia M, Bamshad Michael J, Johnson Britt

Abstract excerpt

Leveraging new sequencing and omic technologies to enhance the detection of pathogenic variants in known disease genes is a key step toward increasing the likelihood of a precise genetic diagnosis for affected individuals. Short-read sequencing is widely used in clinical laboratories for multi-gene panels and exome and genome sequencing, but this technology has inherent limitations in detecting certain classes of...

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PMID: 42049032
DOI: 10.1016/j.ajhg.2026.04.001
PMCID: PMC13277683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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