Gerome D. Breen

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

The paper identifies biologically distinct subtypes of MDD based on energy-related symptoms and finds genetic and metabolic differences between them.

This study identifies genetic differences between fear-based anxiety disorders and generalised anxiety disorder using GWAS, finding partial genetic distinction and shared liability to internalising psychopathology.

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

This study benchmarks TE detection tools on long-read data, showing significant variation in performance and highlighting tool-specific strengths and limitations.

This study identifies 52 genetic variants associated with adolescent-onset depression through a large GWAS, revealing age-specific mechanisms and potential drug targets.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study conducts a genome-wide association analysis of generalised anxiety symptom severity, identifying 80 significant variants and showing genetic correlations with other mental and physical health traits.

This study identifies genetic risk factors for panic attacks and disorder through genome-wide meta-analysis and links them to multiple body systems and neuronal functions.

This study compares Oxford Nanopore long-read sequencing with Illumina short-read sequencing and microarrays across 14 human genomes, finding LRS has competitive accuracy for SNVs and superior performance for structural variants.

LDSC++ improves heritability and genetic correlation estimation in multivariate GWAS by enhancing LD score regression with segmented regression and better handling of shared genetic variants and imputation quality.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

This study identifies two novel genomic loci associated with antidepressant non-response and suggests potential drugs for further validation.

This study identifies genetic subtypes of major depressive symptoms by analyzing data from clinical and community cohorts, finding distinct factors for appetite/weight symptoms and missing data patterns.

This study investigates the genetic relationship between depression symptoms and Alzheimer's disease using GWAS and finds significant genetic correlations but no causal link, suggesting proxy cases may drive the overlap.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

The paper analyzes CAV1 and CAV2 expression in ALS brain tissue and finds higher expression in ALS patients, associated with increased survival and slower disease progression.

This study identifies genetic overlaps between psychiatric disorders, language ability, and creativity through a GWAS of school grades.

The paper estimates how parents' cognitive and non-cognitive skills affect offspring education through environmental effects using polygenic scores and multiple study designs.

This study examines the association between polygenic scores for anorexia nervosa and BMI with growth trajectories over 20 years in children, finding sex-specific effects and potential risk interactions.

This study identifies four genetic factors underlying 11 psychiatric disorders and finds limited evidence for a single dimension of genetic risk across them.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

This study uses proteome-wide Mendelian randomization to identify blood proteins causally linked to severe COVID-19, finding several proteins associated with increased or decreased risk.

The paper investigates genetic associations between eating disorder symptoms and polygenic scores for psychiatric, metabolic, and anthropometric traits in adolescents.

This study investigates how genetic and early environmental factors influence retrospective self-reports of childhood trauma and their association with psychopathology risk.

The paper assesses polygenic scores for educational attainment in Hungarian and English populations, finding significant associations in Hungary but not in England.

The paper investigates genome-wide interactions between stressful life events and depression using a case-cohort study, identifying three genome-wide significant loci but lacking replication in an independent sample.

This study uses twin data to show that fear acquisition and extinction have genetic and environmental influences, with moderate genetic overlap.

COPILOT automates GWAS quality control for Illumina genotyping data, improving sample call rates and identifying data issues across two cohorts.