Publications by authors named "Alex V Kotlar"
Identifying causative gene(s) within disease-associated large genomic regions of copy-number variants (CNVs) is challenging. Here, by targeted sequencing of genes within schizophrenia (SZ)-associated CNVs in 1,779 SZ cases and 1,418 controls, we identified three rare putative loss-of-function (LoF) mutations in OTU deubiquitinase 7A (OTUD7A) within the 15q13.3 deletion in cases but none in controls.
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- Schizophrenia affects about 25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), prompting a study to explore genetic factors that heighten this risk beyond the deletion itself.
- Researchers analyzed whole-genome sequencing data from 519 people with 22q11.2DS to compare genetic variants in those with schizophrenia to those without psychotic disorders, as well as assessing polygenic risk across broader populations.
- The study found that individuals with 22q11.2DS and schizophrenia had significantly higher polygenic risk scores for schizophrenia, highlighting that both the genetic deletion and other common risk factors play a crucial role in the increased likelihood of developing schizophrenia.
Accurately selecting relevant alleles in large sequencing experiments remains technically challenging. Bystro ( https://bystro.io/ ) is the first online, cloud-based application that makes variant annotation and filtering accessible to all researchers for terabyte-sized whole-genome experiments containing thousands of samples.
View Article and Find Full Text PDFSchizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have identified copy number variants that are schizophrenia risk loci.
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