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Front Genet. 2019 Apr 12;10:309. doi: 10.3389/fgene.2019.00309. eCollection 2019.

Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions.

Frontiers in genetics

Simon A Hardwick, Samuel D Bassett, Dominik Kaczorowski, James Blackburn, Kirston Barton, Nenad Bartonicek, Shaun L Carswell, Hagen U Tilgner, Clement Loy, Glenda Halliday, Tim R Mercer, Martin A Smith, John S Mattick

Affiliations

  1. Genomics and Epigenetics Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
  2. Faculty of Medicine, University of New South Wales Sydney, Kensington, NSW, Australia.
  3. Brain and Mind Research Institute and Center for Neurogenetics, Weill Cornell Medicine, New York, NY, United States.
  4. Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, Australia.
  5. Altius Institute for Biomedical Sciences, Seattle, WA, United States.
  6. Green Templeton College, Oxford, United Kingdom.

PMID: 31031799 PMCID: PMC6473190 DOI: 10.3389/fgene.2019.00309

Abstract

The human brain is one of the last frontiers of biomedical research. Genome-wide association studies (GWAS) have succeeded in identifying thousands of haplotype blocks associated with a range of neuropsychiatric traits, including disorders such as schizophrenia, Alzheimer's and Parkinson's disease. However, the majority of single nucleotide polymorphisms (SNPs) that mark these haplotype blocks fall within non-coding regions of the genome, hindering their functional validation. While some of these GWAS loci may contain

Keywords: GWAS; RNA-seq; brain; haplotype blocks; long-read sequencing; non-coding RNA; sequins

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