Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10410355" target="_blank" >RIV/00064203:_____/19:10410355 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/19:10410355
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pd.vkTlLAP" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pd.vkTlLAP</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.b.32716" target="_blank" >10.1002/ajmg.b.32716</a>
Alternative languages
Result language
angličtina
Original language name
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
Original language description
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. (C) 2019 Wiley Periodicals, Inc.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10600 - Biological sciences
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics: Part B, Neuropsychiatric Genetics
ISSN
1552-4841
e-ISSN
—
Volume of the periodical
180
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
223-231
UT code for WoS article
000461018900005
EID of the result in the Scopus database
2-s2.0-85061993948