Evidence map›Paper›PMID 32350262›Full record

ArticleScientific data2020

Reference exome data for Australian Aboriginal populations to support health-based research.

Alexia L Weeks, Heather A D'Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven Y C Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray and 4 more

Open access · goldAbstract readDataset
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific data, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 95% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 6 institutions in 2 countries.

Alexia L WeeksTelethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.
Heather A D'AntoineMenzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
Melita McKinnonMenzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
Genevieve SynTelethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.
Dawn BessarabCentre for Aboriginal Medical and Dental Health, The University of Western Australia, Crawley, Western, Australia.
Ngiare BrownSchool of Education, The University of Wollongong, New South Wales, Australia.
Steven Y C TongMenzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.ORCID http://orcid.org/0000-0002-1368-8356
Bo ReményiMenzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
Andrew SteerGroup A Streptococcal Research Group, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia and Centre for International Child Health, Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.
Lesley-Ann GrayBaker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
Michael InouyeBaker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
Jonathan R CarapetisTelethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.
Jenefer M Blackwell *Telethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0002-0784-7277
Timo Lassmann *Telethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia. timo.lassmann@telethonkids.org.au.ORCID http://orcid.org/0000-0002-0138-2691
The Kids Research Institute Australia · AUCharles Darwin University · AUBaker Heart and Diabetes Institute · AURoyal Children's Hospital · AUThe University of Western Australia · AUUniversity of Wollongong · AU

Funding

Department of Health | National Health and Medical Research Council (NHMRC) APP634301
6 · The paper itself

Abstract

Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the translation of health-based genomic research. Here we provide a catalogue of variants called after sequencing the exomes of 50 Aboriginal individuals from the Northern Territory (NT) of Australia and compare these to 72 previously published exomes from a Western Australian (WA) population of Martu origin. Sequence data for both NT and WA samples were processed using an 'intersect-then-combine' (ITC) approach, using GATK and SAMtools to call variants. A total of 289,829 variants were identified in at least one individual in the NT cohort and 248,374 variants in at least one individual in the WA cohort. Of these, 166,719 variants were present in both cohorts, whilst 123,110 variants were private to the NT cohort and 81,655 were private to the WA cohort. Our data set provides a useful reference point for genomic studies on Aboriginal Australians.

Indexed as

ExomeCohort StudiesGenomicsHumansNorthern TerritoryWestern Australia

Identifiers

PMID32350262
PMCPMC7190730
OpenAlexW3023491419

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.