Journal article

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

Denise Harold, Siobhan Connolly, Brien P Riley, Kenneth S Kendler, Shane E McCarthy, William R McCombie, Alex Richards, Michael J Owen, Michael C O'Donovan, James Walters, Peter Donnelly, Lesley Bates, Ines Barroso, Jenefer M Blackwell, Elvira Bramon, Matthew A Brown, Juan P Casas, Aiden Corvin, Panos Deloukas, Audrey Duncanson Show all

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | WILEY | Published : 2019


Genome-wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of large copy number variants, are difficult to detect with GWAS. Exome and genome sequencing, which have accelerated the study of rare variants, are expensive so alternative methods are needed to aid detection of rare variants. Here we re-analyze an Irish schizophrenia GWAS dataset (n = 3,473) by performing identity-by-descent (IBD) mapping followed by exome sequencing of individuals identified as sharing risk haplotypes to search for rare risk variants in coding regions. We id..

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