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

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DOI

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy

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  3. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

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  4. Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers

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  5. Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population

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  1. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  2. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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  3. Clinical association to FKBP5 rs1360780 in patients with depression

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  4. A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

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  5. Genetic risk scores for major psychiatric disorders and the risk of postpartum psychiatric disorders

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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 identified 45 rare haplotypes (>1 cM) that were significantly more common in cases than controls. By exome sequencing 105 haplotype carriers, we investigated these haplotypes for functional coding variants that could be tested for association in independent GWAS samples. We identified one rare missense variant in PCNT but did not find statistical support for an association with schizophrenia in a replication analysis. However, IBD mapping can prioritize both individual samples and genomic regions for follow-up analysis but genome rather than exome sequencing may be more effective at detecting risk variants on rare haplotypes.

Original languageEnglish
JournalAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Volume180
Issue number3
Pages (from-to)223-231
Number of pages9
ISSN1552-4841
DOIs
Publication statusPublished - Apr 2019

ID: 59085578