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

Journal:

American Journal of Human Genetics

Published:

2026-04-27

DOI:

10.1016/j.ajhg.2026.04.001

Affiliations:

9

Authors:

28

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Institutions	Authors	Share
GeneDx, United States of America (USA)	16.500000 16.500000	0.59
PacBio, United States of America (USA)	6.000000	0.21
Brotman Baty Institute, United States of America (USA)	1.333333	0.05
UW Medicine, United States of America (USA)	1.000000	0.04
Albert Einstein College of Medicine (Einstein), United States of America (USA)	1.000000	0.04
Google LLC, United States of America (USA)	1.000000	0.04
University of Washington (UW), United States of America (USA)	0.666667	0.02
University of Virginia (UVA), United States of America (USA)	0.500000	0.02

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