ReviewAmerican journal of human genetics2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Open access · bronzeAbstract readReview
In one paragraph
Review in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Opportunities for a national genomic data governance framework in Australia: a systematic review.BMC medical ethics · 2025Pooled it
- Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.European journal of human genetics : EJHG · 2026Article
- Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.NPJ breast cancer · 2026Review
- ClinGen API platform for classification of human genetic variants.Cell genomics · 2026Article
- Mondo: integrating disease terminology across communities.Genetics · 2026Article
- Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.The Journal of molecular diagnostics : JMD · 2026Article
- Semi-automated genomic newborn screening highlights complexities in reporting.NPJ genomic medicine · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.Acta diabetologica · 2025Article
- Mapping MAVE data for use in human genomics applications.Genome biology · 2025Article
- Consultation informs strategies for improving the use of functional evidence in variant classification.American journal of human genetics · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
- An AI-driven framework for enhancing regulatory precision and efficiency in CRISPR-Cas gene-edited crops: challenges, opportunities, and global harmonization.Frontiers in plant science · 2025Article
- Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.European journal of human genetics : EJHG · 2024Article
- Research needs for birth defect prevention and control in China in the genomic screening era.BMJ (Clinical research ed.) · 2024Article
- Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.Kidney international reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
70 authors at 19 institutions in 1 country.
Emma TudiniAustralian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
James AndrewsAustralian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia.
David M LawrenceAustralian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia.
Sarah L King-SmithAustralian Genomics, Melbourne, VIC 3052, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Naomi BakerVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia.
Leanne BaxterPathology Queensland, Brisbane, QLD 4006, Australia.
John BeilbyPathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; School of Biomedical Sciences, The University of Western Australia, Perth, WA 6009, Australia.
Bruce BennettsSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia.
Victoria BeshayDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia.
Michael BlackDepartment of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia.
Tiffany F BoughtwoodAustralian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Kristian BrionPathology Queensland, Brisbane, QLD 4006, Australia.
Pak Leng CheongDepartment of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia; University of Sydney, Sydney, NSW 2006, Australia.
Michael ChristieDepartment of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
John ChristodoulouAustralian Genomics, Melbourne, VIC 3052, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Belinda ChongVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Kathy CoxGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Mark R DavisDepartment of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; Centre for Medical Research, The University of Western Australia, Perth, WA 6009, Australia.
Lucas DejongGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Marcel E DingerSchool of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.
Kenneth D DoigDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3052, Australia.
Evelyn DouglasGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Andrew DubowskyGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Melissa EllulGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Andrew FellowesDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia.
Katrina FiskSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Cristina FortunoPopulation Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Kathryn FriendGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Renee L GallagherPathology Queensland, Brisbane, QLD 4006, Australia.
Song GaoGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Emma HackettSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Johanna HadlerGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Michael HipwellDivision of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia.
Gladys HoSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia.
Georgina HollwayGarvan Institute of Medical Research, Sydney, NSW 2010, Australia; Cancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Amanda J HooperDepartment of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia; School of Medicine, The University of Western Australia, Perth, WA 6009, Australia.
Karin S KassahnGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia.
Rahul KrishnarajSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Chiyan LauPathology Queensland, Brisbane, QLD 4006, Australia; The University of Queensland, Brisbane, QLD 4072, Australia.
Huong LeDepartment of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia.
Huei San LeongDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia.
Ben LundiePathology Queensland, Brisbane, QLD 4006, Australia.
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia.
Anthony MartyMelbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia.
Mary McPhillipsDivision of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia.
Lan T NguyenDepartment of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia.
Katia NonesCancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Kristen PalmerGenomics Statewide Services, New South Wales Health Pathology, Newcastle, NSW 2300, Australia.
John V PearsonGenome Informatics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Michael C J QuinnAustralian Genomics, Melbourne, VIC 3052, Australia; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Lesley H RawlingsGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Simon SadedinVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Louisa SanchezGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Andreas W SchreiberAustralian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia.
Emanouil SigalasDepartment of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
Aygul SimsekGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Julien SoubrierGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia.
Zornitza StarkAustralian Genomics, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia.
Bryony A ThompsonDepartment of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
James UMelbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia.
Cassandra G VakulinGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Amanda V WellsGenetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
Cheryl A WiseDepartment of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia.
Rick WoodsPathology Queensland, Brisbane, QLD 4006, Australia.
Andrew ZiolkowskiDivision of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia.
Marie-Jo BrionAustralian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Hamish S ScottAustralian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia.
Natalie P ThorneAustralian Genomics, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia; Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia.
Amanda B SpurdleAustralian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: amanda.spurdle@qimrberghofer.edu.au.
Shariant Consortium
South Australia Pathology · AUThe University of Melbourne · AUQIMR Berghofer Medical Research Institute · AUQueensland Health · AUNew South Wales Department of Health · AUThe University of Sydney · AUChildren's Hospital at Westmead · AUPeter MacCallum Cancer Centre · AUThe Royal Melbourne Hospital · AUThe University of Western Australia · AUMelbourne Genomics Health Alliance · AUPathwest Laboratory Medicine · AURoyal Brisbane and Women's Hospital · AUVictorian Clinical Genetics Services · AUFiona Stanley Hospital · AUGarvan Institute of Medical Research · AUMurdoch Children's Research Institute · AURoyal Prince Alfred Hospital · AUUNSW Sydney · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing. This information was used to define key needs and solutions required to enable national sharing of variant interpretations. The Shariant platform, using both the GRCh37 and GRCh38 genome builds, was developed to enable ongoing sharing of variant interpretations and associated evidence between Australian clinical genetic-testing laboratories. Where possible, two-way automated sharing was implemented so that disruption to laboratory workflows would be minimized. Terms of use were developed through consultation and currently restrict access to Australian clinical genetic-testing laboratories. Shariant was designed to store and compare structured evidence, to promote and record resolution of inter-laboratory classification discrepancies, and to streamline the submission of variant assertions to ClinVar. As of December 2021, more than 14,000 largely prospectively curated variant records from 11 participating laboratories have been shared. Discrepant classifications have been identified for 11% (28/260) of variants submitted by more than one laboratory. We have demonstrated that co-design with clinical laboratories is vital to developing and implementing a national variant-interpretation sharing effort. This approach has improved inter-laboratory concordance and enabled opportunities to standardize interpretation practices.
Indexed as
Databases, GeneticLaboratoriesAustraliaGenetic TestingGenetic VariationHumans
Identifiers
What OpenQuestion holds
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.