Consultation informs strategies for improving the use of functional evidence in variant classification.
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| Title: | Consultation informs strategies for improving the use of functional evidence in variant classification. |
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| Authors: | Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Terrill B; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Clinical Translation and Engagement Platform, Garvan Institute of Medical Research, Sydney, NSW, Australia; Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Tudini E; QIMR Berghofer, Brisbane, QLD, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McKenzie ME; QIMR Berghofer, Brisbane, QLD, Australia., Cliffe CC; Douglass Hanly Moir Pathology, Macquarie Park, NSW, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Lundie B; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., Matotek E; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Nickerson SL; Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, WA, Australia; The University of Western Australia, Perth, WA, Australia., Breen J; Black Ochre Data Labs (Indigenous Genomics), The Kids Research Institute Australia & Australian National University, Adelaide, SA, Australia; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Christodoulou J; Genomic Medicine Theme, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Starita L; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Rubin AF; The Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Melbourne, VIC, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. Electronic address: alan.rubin@wehi.edu.au., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au. |
| Source: | American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1489-1495. |
| 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 |
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