Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

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Bibliographic Details
Title: Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.
Authors: Park MS; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA., Kumar RD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Ovadiuc C; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Center, Seatle, WA, USA., Folta A; Division of Medical Genetics, University of Washington, Seattle, WA, USA., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Snyder A; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Shirts BH; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: lstarita@uw.edu., Stergachis AB; Division of Medical Genetics, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: absterga@uw.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1468-1478.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.04.009