Repository logo
 

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

Published version
Peer-reviewed

Type

Article

Change log

Authors

Weeks, Alexia L 
D'Antoine, Heather A 
McKinnon, Melita 
Syn, Genevieve 
Bessarab, Dawn 

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.

Description

Keywords

Cohort Studies, Exome, Genomics, Humans, Native Hawaiian or Other Pacific Islander, Northern Territory, Western Australia

Journal Title

Sci Data

Conference Name

Journal ISSN

2052-4463
2052-4463

Volume Title

7

Publisher

Springer Science and Business Media LLC