Research summary
Aggregation and analysis of high-quality exome (protein-coding) DNA sequence data for 60,706 individuals of diverse ancestries through the Exome Aggregation Consortium produced a catalogue of human protein-coding genetic variation used for medical and functional interpretation of sequence changes [1]. The largest exome sequencing study of autism spectrum disorder at the time analysed 35,584 samples (11,986 with ASD), and an enhanced analytical framework integrating de novo and case-control rare variation identified 102 risk genes at false discovery rate <= 0.1; of these, 49 showed higher frequencies of disruptive de novo variants in individuals ascertained for ASD-related phenotypes [3]. A Lancet Neurology Commission on traumatic brain injury outlines the global burden of TBI, including the estimate that more than 50 million people sustain a TBI each year and that about half of the world's population will have one or more TBIs over their lifetime. The article proposes integrated approaches across prevention, clinical care and research to address the public-health challenge posed by TBI [2].
Recent publications
- Analysis of protein-coding genetic variation in 60,706 humansDOI
- Biological insights from 108 schizophrenia-associated genetic lociDOI
- Integrating common and rare genetic variation in diverse human populationsDOI
- Synaptic, transcriptional and chromatin genes disrupted in autismDOI
- Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisDOI
- Identification of common genetic risk variants for autism spectrum disorderDOI
- Traumatic brain injury: integrated approaches to improve prevention, clinical care, and researchDOI
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of AutismDOI
- A cross-population atlas of genetic associations for 220 human phenotypesDOI
- A mutation in APP protects against Alzheimer鈥檚 disease and age-related cognitive declineDOI
The lab page does not clearly state student acceptance status. Email the professor directly to confirm.
How to apply
Email Aarno Palotie 6-12 months before your application deadline. Read several recent papers and reference specific work in your message. Use our how to email a Japanese professor guide for the proven email structure.
For applications via MEXT scholarship: see our MEXT 2027 complete guide and university-specific University Recommendation track.
External profiles
- ORCID: https://orcid.org/0000-0002-2527-5874
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, Nagoya University faculty directory). Last refreshed 2026-05. Report incorrect information.