For researchers | Australian Autism Biobank

Help advance our understanding of how biological and environmental factors are linked to autistic health and wellbeing.

The Australian Autism Biobank is Australia’s largest collection of data and samples from autistic children and their families.

This page outlines how researchers can apply to use resources from the Australian Autism Biobank for approved research purposes. The Biobank includes biological samples and data (including whole genome sequencing), and behavioural, socio-economic, and health data from internationally-validated tools and questionnaires. This page contains a breakdown of participant numbers, sex and age groups, a link to the applications page, and a sample of the latest publications and resources from research projects using Biobank data and samples.

Watch the video for an overview of opportunities for autism research using the Australian Autism Biobank.

Almost 3,000 people participated in the Australian Autism Biobank.

Infographic of family with bubbles showing the the demographics of the Biobank: 1154 autistic children, 774 mothers of autistic children, 523 fathers of autistic children, 261 non-autistic siblings of autistic children, 150 non-autistic, non-related children, 15 children with unclear diagnosis.

Infographic showing the age of child participants: 33% 2-4 years, 55% 5-12 years, 12% 13-18 years

Infographic showing the sex of child participants. Autistic children were 79% male, 21% female. Non-autistic siblings were 48% male, 52% female. Non-autistic, non-related siblings were 49% male, 51% female.

Almost 3,000 people participated in the Australian Autism Biobank.

Age of child participants

Most of the children that participated were 5-12 years old.

Sex of child participants

Most of the autistic children were male. The mix of male and female participants was more equal in the other groups.

Graph showing the sex. Autistic children were 79% male, 21% female. Non-autistic siblings were 48% male, 52% female. Non-autistic, non-related siblings were 49% male, 51% female.

Using the Australian Autism Biobank

All applications are considered by the Autism CRC Access Committee. You can find out how to apply, and what data and samples are available, on the application process page.

Find out how to apply

What data is available

The following tables give a brief overview of the samples availability and categories. More detailed information can be provided during the application process.

DisplayHide data and samples table

Table 1: Phenotypic data.
Category	Dataset	Short name	Mother*	Father*	Proband	Sibling	Control
Diagnostic Assessments	Autism Diagnostic Observation Schedule – 2 (Mod 1 -4)	ADOS			1125	1
Diagnostic Assessments	The Developmental, Diagnostic, and Dimensional Interview	3DI			785
Cognitive Testing	Mullen Scales of Early Learning (2 – 5 yrs 11 months)	MSEL			419	84	85
	Wechsler Intelligence Scale for Children – 4th ed (6-17 years)	WISC			436	151	61
	Wechsler Abbreviated Scale of Intelligence – 2nd Edition	WASI-I	726	457
Questionnaires	Vineland Adaptive Behaviour Scales 2nd Edition	VABS			878
	Family History Questionnaire	FHQ			1025	235	129
	Child Development Questionnaire	CDQ
	Children’s Communication Checklist	CCC			772
	Communication Checklist – Adult	CCA	650	608			28 mothers, 26 fathers
	Broad Autism Phenotype	BAP	756	738			115 mothers, 115 fathers
	Social Responsiveness Scale	SRS			50	175	123
	Short Sensory Profile – 2	SSP			713
	Early Concerns	EAC			423
	Oral Health Survey	OHS			153
Physical / dietary characteristics	Food Frequency Questionnaire (Australian Eating Survey)	FFQ			180	75	84
	Tanner scales	TS			271	90	27
	Clinical Proforma	CP			1103	252	149

Table 2: Genomic data.
Category	Dataset	Short name	Source	Mother*	Father*	Proband	Sibling	Control
DNA related	Whole Genome Sequencing¹	WGS		437	437	530	135
	Genomic Wide Association Study & Single Nucleotide Polymorphism²	GWAS/SNIPS		752	504	887	218	116
	Metagenomic2		Stool			100	50	49
	Methylation2		Buffy coat			255	125	68
	Polygenic scores2	PGS				887	217	117

Illumina NovaSeq platform. Genome ref: CRch37. Library method: TruSeq DNA PCR-Free. Read: Short, 150 bp end. Total Reeds: 1000 Gpb min. Mean target Covered: 30x. Quality control tool: Plink, Peddy, Picard. Alignment tool: BWA-MEM. Variant Calling tool: DRAGEN Germline Variant. Data is available as raw (FASTQ), aligned sequences (BAM/CRAM), or variant call format (VCF).
For more information about genomic data, see the genotyping summary.

Table 3: Other data.
Dataset	Source	Mother*	Father*	Proband	Sibling	Control
Cortisol¹	Hair²			356	162	131
Melatonin³	Urine			219

Samples were analyse using validated protocols (Bryson et al., 2020)
Processed steroid samples stored in phosphate-buffered saline (PBS)
Concentrations were estimated from a mix of 2 samples collected in two different times of the day using an ELISA protocol

Table 4. Biological samples.
Category	Samples	Mother*	Father*	Proband	Sibling	Control
Blood	Plasma¹	558	374	798	217	117
	Serum²	586	394	698	218	78
	Red Blood cells (RBC)	586	394	677	215	116
	Whole blood	584	391	659	213	115
Nucleic Acids	DNA	584	529	659	136	0
Nucleic Acids	RNA³	131	89	150	55	9
Other	Urine⁴			316	140	125
Other	Stool⁵			215	95	78

Stored in ethylenediaminetetraacetic acid (EDTA), an anticoagulant.
Stored in serum-separating tubes (SST)
Stored as Paxgene samples
Samples stored as collected (no additives)
Samples stored in RNALater to protect cellular RNA

Acknowledgements

Autism CRC would like to thank the children on the autism spectrum, their siblings and parents and other children who generously contributed their time and data/samples for the Australian Autism Biobank.

Autism CRC acknowledges and thanks the various sites and their staff who supported the establishment of the Australian Autism Biobank: Telethon Kids Institute, University of NSW, La Trobe University, Mater Medical Research Institute, Institute for Molecular Biosciences: University of Queensland, Wesley Medical Research, University of Western Australia, Pathwest and Sydney Children’s Hospital Network, Andrew Whitehouse, Dora Abbondanza, Gail Alvares, Erin Beattie, Jolene Berry, Vandhana Bharti, Grace Christou, Dominique Cleary, Paul A Dawson, Melanie De Jong, Cheryl Dissanayake, Kendra Dommisse, Valsamma Eapen, Mira Frenk, Jacob Gratten, Rachel Grove, Claire Hafekost, Maryam Haghiran, Alexis Harun, Nicole Hayes, Anjali Henders, Honey Heussler, Helen Holdsworth, Anneliese Hopkins, Anna Hunt, Rachel Jellett, Feroza Khan, Lauren Lawson, Deborah Lennon, Jodie Leslie, Anne Masi, Nisha Mathew, Tiana McLaren, Candice Michael, Melanie Muniandy, Melissa Neylan, Michaela Nothard, Brooke Peden, Mridu Radhakrishnan, Ola Rajapakse, Emma Raymond, Felicity Rose, Natalie Silove, Ashley Thomson, Leanne Wallace and Naomi Wray.

Using the Australian Autism Biobank

All applications are considered by the Autism CRC Access Committee. You can find out how to apply, and what data and samples are available, on the application process page.

Find out how to apply

Mullin, B.H., Stuckey, M., Brown, S.J., Mullin, S., Campbell, P.J., Dudbridge, F., Menni, C., Walsh, J.P., Whitehouse, A.J.O. & Wilson, S.G. (2025). Plasma Metabolite Profiles of Children with Autism Spectrum Disorder. Metabolites 2025, 15, 780. doi.org/10.3390/metabo15120780
Myat, P., John, J.R., Montgomery, J., Eapen, V., (2025). Sociocultural and perinatal health factors associated with Autism spectrum disorder (ASD) in children, Comprehensive Psychiatry doi.org/10.1016/j.comppsych.2025.152576.
Di Mento, B., John, J.R., Diaz, A.M., Ping-I, L., Masi, A., Grove, R., Eapen, V., (2024). Sex Differences in the Broad Autism Phenotype: Insights from the Australian Biobank. J Autism Development Disorders. doi.org/10.1007/s10803-024-06466-4.

View full list of publications and resources

Contact

For more information, contact the Australian Autism Biobank at biobank@autismcrc.com.au.

For researchers | Australian Autism Biobank

Almost 3,000 people participated in the Australian Autism Biobank.

Almost 3,000 people participated in the Australian Autism Biobank.

Age of child participants

Sex of child participants

Using the Australian Autism Biobank

What data is available

Table 1: Phenotypic data.

Table 2: Genomic data.

Table 3: Other data.

Table 4. Biological samples.

Acknowledgements

Using the Australian Autism Biobank

Contact

Acknowledgements