Bernie Devlin
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View article: A framework to infer <i>de novo</i> exonic variants when parental genotypes are missing enhances association studies of autism
A framework to infer <i>de novo</i> exonic variants when parental genotypes are missing enhances association studies of autism Open
Motivation Gene-damaging mutations are highly informative for studies seeking to discover genes underlying developmental disorders. Traditionally, these de novo variants are recognized by evaluating high-quality DNA sequence from affected …
View article: PACS1 syndrome variant alters proteomic landscape of developing cortical organoids
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids Open
PACS1 syndrome is a neurodevelopmental disorder resulting from a unique de novo p.R203W variant in Phosphofurin Acidic Cluster Sorting protein 1 (PACS1). PACS1 encodes a multifunctional sorting protein required for localizing furin to the …
View article: Transcriptomes of higher order thalamic nuclei in obsessive compulsive disorder
Transcriptomes of higher order thalamic nuclei in obsessive compulsive disorder Open
Obsessive-compulsive disorder (OCD) is a chronic psychiatric illness associated with altered function in cortico-striatal-thalamo-cortical (CSTC) circuits. In this pilot study, we examined differential RNA expression in the thalamus using …
View article: Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations Open
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However…
View article: Functional annotation of rare structural variation in the human brain
Functional annotation of rare structural variation in the human brain Open
Structural variants (SVs) contribute to many disorders, yet, functionally annotating them remains a major challenge. Here, we integrate SVs with RNA-sequencing from human post-mortem brains to quantify their dosage and regulatory effects. …
View article: Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia
Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia Open
RNA editing critically regulates neurodevelopment and normal neuronal function. The global landscape of RNA editing was surveyed across 364 schizophrenia cases and 383 control postmortem brain samples from the CommonMind Consortium, compri…
View article: CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder
CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder Open
Schizophrenia and bipolar disorder are serious mental illnesses that affect more than 2% of adults. While large-scale genetics studies have identified genomic regions associated with disease risk, less is known about the molecular mechanis…
View article: Genetic associations with psychosis and affective disturbance in Alzheimer's disease
Genetic associations with psychosis and affective disturbance in Alzheimer's disease Open
INTRODUCTION Individuals with Alzheimer's disease (AD) commonly experience neuropsychiatric symptoms of psychosis (AD+P) and/or affective disturbance (depression, anxiety, and/or irritability, AD+A). This study's goal was to identify the g…
View article: Comparison of gene expression in living and postmortem human brain
Comparison of gene expression in living and postmortem human brain Open
Molecular mechanisms of neuropsychiatric disorders are challenging to study in human brain. For decades, the preferred model has been to study postmortem human brain samples despite the limitations they entail. A recent study generated RNA…
View article: Evaluating and Improving Health Equity and Fairness of Polygenic Scores
Evaluating and Improving Health Equity and Fairness of Polygenic Scores Open
Polygenic scores (PGS) are quantitative metrics for predicting phenotypic values, such as human height or disease status. Some PGS methods require only summary statistics of a relevant genome-wide association study (GWAS) for their score. …
View article: Direct additive genetics and maternal effect contribute to the risk of Tourette disorder
Direct additive genetics and maternal effect contribute to the risk of Tourette disorder Open
Background Risk for Tourette disorder, and chronic motor or vocal tic disorders (referenced here inclusively as CTD), arise from a combination of genetic and environmental factors. While multiple studies have demonstrated the importance of…
View article: Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism Open
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation in the broader population. We build upon this observation an…
View article: The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum
The Genetic Architecture of Obsessive-Compulsive Disorder: Contribution of Liability to OCD From Alleles Across the Frequency Spectrum Open
These results indicate that common inherited risk variation (MAF ≥0.01) accounts for most of the heritable variation in OCD. SNPs with low MAF contribute meaningfully to the heritability of OCD, and the results are consistent with expectat…
View article: Genome-wide association study identifies new locus associated with OCD
Genome-wide association study identifies new locus associated with OCD Open
Obsessive-compulsive disorder (OCD) is a heritable disorder, but no definitive, replicated OCD susceptibility loci have yet been identified by any genome-wide association study (GWAS). Here, we report results from a GWAS in the largest OCD…
View article: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder Open
Background The Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower c…
View article: An approach to gene-based testing accounting for dependence of tests among nearby genes
An approach to gene-based testing accounting for dependence of tests among nearby genes Open
In genome-wide association studies (GWAS), it has become commonplace to test millions of single-nucleotide polymorphisms (SNPs) for phenotypic association. Gene-based testing can improve power to detect weak signal by reducing multiple tes…
View article: Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development
Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development Open
Post-transcriptional modifications by RNA editing are essential for neurodevelopment, yet their developmental and regulatory features remain poorly resolved. We constructed a full temporal view of base-specific RNA editing in the developin…
View article: An approach to gene-based testing accounting for dependence of tests among nearby genes
An approach to gene-based testing accounting for dependence of tests among nearby genes Open
In genome-wide association studies (GWAS), it has become commonplace to test millions of SNPs for phenotypic association. Gene-based testing can improve power to detect weak signal by reducing multiple testing and pooling signal strength. …
View article: Bayesian estimation of cell type–specific gene expression with prior derived from single-cell data
Bayesian estimation of cell type–specific gene expression with prior derived from single-cell data Open
When assessed over a large number of samples, bulk RNA sequencing provides reliable data for gene expression at the tissue level. Single-cell RNA sequencing (scRNA-seq) deepens those analyses by evaluating gene expression at the cellular l…