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dc.contributor.authorHarold, D
dc.contributor.authorConnolly, S
dc.contributor.authorRiley, BP
dc.contributor.authorKendler, KS
dc.contributor.authorMcCarthy, SE
dc.contributor.authorMcCombie, WR
dc.contributor.authorRichards, A
dc.contributor.authorOwen, MJ
dc.contributor.authorO'Donovan, MC
dc.contributor.authorWalters, J
dc.contributor.authorDonnelly, P
dc.contributor.authorBates, L
dc.contributor.authorBarroso, I
dc.contributor.authorBlackwell, JM
dc.contributor.authorBramon, E
dc.contributor.authorBrown, MA
dc.contributor.authorCasas, JP
dc.contributor.authorCorvin, A
dc.contributor.authorDeloukas, P
dc.contributor.authorDuncanson, A
dc.contributor.authorJankowski, J
dc.contributor.authorMarkus, HS
dc.contributor.authorMathew, CG
dc.contributor.authorPalmer, CNA
dc.contributor.authorPlomin, R
dc.contributor.authorRautanen, A
dc.contributor.authorSawcer, SJ
dc.contributor.authorTrembath, RC
dc.contributor.authorViswanathan, AC
dc.contributor.authorWood, NW
dc.contributor.authorSpencer, CCA
dc.contributor.authorBand, G
dc.contributor.authorBellenguez, C
dc.contributor.authorFreeman, C
dc.contributor.authorHellenthal, G
dc.contributor.authorGiannoulatou, E
dc.contributor.authorHopkins, L
dc.contributor.authorPirinen, M
dc.contributor.authorPearson, R
dc.contributor.authorStrange, A
dc.contributor.authorSu, Z
dc.contributor.authorVukcevic, D
dc.contributor.authorLangford, C
dc.contributor.authorHunt, SE
dc.contributor.authorEdkins, S
dc.contributor.authorGwilliam, R
dc.contributor.authorBlackburn, H
dc.contributor.authorBumpstead, SJ
dc.contributor.authorDronov, S
dc.contributor.authorGillman, M
dc.contributor.authorGray, E
dc.contributor.authorHammond, N
dc.contributor.authorJayakumar, A
dc.contributor.authorMcCann, OT
dc.contributor.authorLiddle, J
dc.contributor.authorPotter, SC
dc.contributor.authorRavindrarajah, R
dc.contributor.authorRicketts, M
dc.contributor.authorWaller, M
dc.contributor.authorWeston, P
dc.contributor.authorWidaa, S
dc.contributor.authorWhittaker, P
dc.contributor.authorRipke, S
dc.contributor.authorNeale, BM
dc.contributor.authorCorvin, A
dc.contributor.authorWalters, JTR
dc.contributor.authorFarh, KH
dc.contributor.authorHolmans, PA
dc.contributor.authorLee, P
dc.contributor.authorBulik-Sullivan, B
dc.contributor.authorCollier, DA
dc.contributor.authorHuang, H
dc.contributor.authorPers, TH
dc.contributor.authorAgartz, I
dc.contributor.authorAgerbo, E
dc.contributor.authorAlbus, M
dc.contributor.authorAlexander, M
dc.contributor.authorAmin, F
dc.contributor.authorBacanu, SA
dc.contributor.authorBegemann, M
dc.contributor.authorBelliveau, RA
dc.contributor.authorBene, J
dc.contributor.authorBergen, SE
dc.contributor.authorBevilacqua, E
dc.contributor.authorBigdeli, TB
dc.contributor.authorBlack, DW
dc.contributor.authorBruggeman, R
dc.contributor.authorBuccola, NG
dc.contributor.authorBuckner, RL
dc.contributor.authorByerley, W
dc.contributor.authorCahn, W
dc.contributor.authorCai, G
dc.contributor.authorCampion, D
dc.contributor.authorCantor, RM
dc.contributor.authorCarr, VJ
dc.contributor.authorCarrera, N
dc.contributor.authorCatts, SV
dc.contributor.authorChambert, KD
dc.contributor.authorChan, RCK
dc.contributor.authorChan, RYL
dc.date.accessioned2019-07-02T12:31:30Z
dc.date.available2019-07-02T12:31:30Z
dc.date.issued2019
dc.identifier.issn1552-4841
dc.identifier.doi10.1002/ajmg.b.32716
dc.identifier.urihttp://hdl.handle.net/10072/385436
dc.description.abstractGenome‐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.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofpagefrom223
dc.relation.ispartofpageto231
dc.relation.ispartofissue3
dc.relation.ispartofjournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
dc.relation.ispartofvolume180
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchcode0604
dc.subject.fieldofresearchcode1103
dc.subject.fieldofresearchcode1109
dc.titlePopulation-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorChan, Raymond


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