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Bulgarian Schizophrenia Trio Sequencing Study

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NIAID Data Ecosystem2026-04-25 收录
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000687.v1.p1
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The primary aim of this study is to whole exome sequence complete Bulgarian trios to identify de novo mutations in schizophrenic probands. We are investigating the rate of de novo mutations in probands as well as looking for enrichment among previously implicated genes and synaptic gene sets.]]> Probands of this study (N=623), were included as schizophrenic cases with the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria. Patients attended, and graduated with a passing grade, from mainstream schools, which excluded people with intellectual disability (mental retardation). Parents are also classified as schizophrenic cases if they meet the criteria of a positive history of hospitalization for schizophrenia or schizoaffective disorder from psychiatric hospitals in Bulgaria.]]> The Bulgarian Trio Sequencing study is an accumulation of exome sequencing performed and/or funded by the Medical Research Council (UK), Broad Institute, Cardiff University, Icahn School of Medicine at Mount Sinai, and the Wellcome Trust Sanger Institute. Exome DNA was captured from genomic DNA extracted from whole blood using either Agilent hybrid capture or Nimblegen array-based capture, and subjected to paired-end sequencing on Illumina HiSeq sequencers. The BWA/Picard/GATK pipeline was used for sequence alignment and variant calling. All samples were collected from the University Hospital Alexander in Sofia, Bulgaria.]]>
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2013-11-26
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