ArticleNature2023
The landscape of genomic structural variation in Indigenous Australians.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
6.6field-weighted citation impact, top 3% of its field
What it found
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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
29 citing papers in PubMed, 43 citations in OpenAlex.
- Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.iScience · 2026Article
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- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- Targeted sequencing and iterative assembly of near-complete genomes.Nature communications · 2025Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- The impact of genetics and the environment on cancer risk in Indigenous Australians: a narrative review.The Lancet regional health. Western Pacific · 2025Review
- Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype.Annual review of genomics and human genetics · 2025Review
- Pooled, Long-read Sequencing for Structural Variant Characterization in Schistosome Populations.Genome biology and evolution · 2025Article
- Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution.Briefings in bioinformatics · 2025Article
- A new compression strategy to reduce the size of nanopore sequencing data.Genome research · 2025Article
- Enhanced identification of novel pathogenic variants in hereditary hearing loss through physical phasing with integrated short and long-read sequencing data.Molecular genetics and genomics : MGG · 2025Article
- A High-Resolution Genomic Study of the Pama-Nyungan Speaking Yolngu People of Northeast Arnhem Land, Australia.American journal of biological anthropology · 2025Article
- Article
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.Nature communications · 2025Article
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
- Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous health.Frontiers in molecular biosciences · 2025Review
- Implementing genomic medicine in New Zealand.Journal of the Royal Society of New Zealand · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 10 institutions in 2 countries.
Andre L M ReisGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-7300-1157
Melissa RapadasGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-4900-2838
Jillian M HammondGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-4045-4571
Hasindu GamaarachchiGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-9034-9905
Igor StevanovskiGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0002-7713-1979
Meutia Ayuputeri KumaheriGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Sanjog R ChintalaphaniGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Duminda S B DissanayakeNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Owen M SiggsGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID 0000-0003-2840-4851
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Bastien LlamasNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0002-5550-9176
Alex BrownNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Gareth BaynamTelethon Kids Institute and Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.ORCID 0000-0003-4920-9553
Graham J MannNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0003-1301-405X
Brendan J McMorranNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Simon EastealNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0002-0462-502X
Azure HermesNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
Misty R JenkinsImmunology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0001-6564-2715
National Centre for Indigenous Genomics
Hardip R PatelNational Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. hardip.patel@anu.edu.au.
Ira W DevesonGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. i.deveson@garvan.org.au.ORCID 0000-0003-3861-0472
Australian National University · AUGarvan Institute of Medical Research · AUThe Kids Research Institute Australia · AUACT GovernmentCharles Darwin University · AUCommonwealth Scientific and Industrial Research Organisation · AULowitja Institute · AUMIT University · MKUniversity of Tasmania · AUWalter and Eliza Hall Institute of Medical Research · AU
Funding
Medical Research Council
Abstract
Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets
Indexed as
Australian Aboriginal and Torres Strait Islander PeoplesGenome, HumanGenomic Structural VariationAllelesAustralasian PeopleAustraliaDatasets as TopicDNA Copy Number VariationsGenetic LociGenetics, MedicalGenomicsHumansINDEL MutationInterspersed Repetitive SequencesMicrosatellite Repeats
Identifiers
What OpenQuestion holds
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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.