Jonas Bybjerg‐Grauholm

This paper introduces DoBSeq, a low-cost framework for detecting rare variants in population-scale genetic screening, achieving 95% variant detection and recovering all clinically relevant pathogenic variants in ACMG genes.

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

DoBSeqWF is a pipeline for analyzing pooled sequencing data to detect rare genetic variants, improving sensitivity with machine learning filters.

This study identifies sequencing artifacts in SARS-CoV-2 genome sequencing caused by PCR primers and reference genome choices, showing how they lead to ambiguous base calls and missed mutations.

The paper identifies chr22q as a regulatory hub where genetic risk for neuropsychiatric conditions is associated with coordinated gene expression downregulation in brain tissue.

The paper evaluates the performance of the Illumina Infinium MethylationEPIC v2.0 array using DNA from Swedish neonatal blood spots, showing high probe call rates with low DNA input.

This study examines how rare copy number variants and polygenic scores jointly affect psychiatric disorder risk in a large population sample, finding no significant interaction between the two factors.

The paper identifies psychometric archetypes in young adults that correlate with biological markers of mental health vulnerability and resilience, improving predictive models for clinical outcomes.

This study conducts a large-scale GWAS of OCD, identifying 15 new genome-wide significant loci and linking OCD to multiple cortical regions and cell types.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.

The paper evaluates how haplotype estimation and whole genome imputation accuracy vary with data integration protocols and phasing methods in a large psychiatric biobank dataset.

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

This study investigates genetic variants in hydrocephalus patients and finds associations with ciliopathies and autism spectrum disorder using the iPSYCH cohort.

This study investigates the association between mitochondrial DNA haplogroups and hydrocephalus using a nested case-cohort design, finding no significant association.

This study identifies genetic correlates of phenotypic heterogeneity in autism by analyzing common and de novo variants across core features and co-occurring disabilities.

The paper investigates the female protective effect against autism spectrum disorder by analyzing genetic risk in siblings and parents of ASD cases, finding evidence of sex differences in inherited genetic risk.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

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 paper introduces LT-FH++, a method that improves GWAS power by incorporating age-of-onset and family history, showing increased significant associations in psychiatric disorders and mortality data.

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 Mendelian randomization to test if SMOX levels causally affect cancer risk, finding no significant association with six cancer types.

This study identifies seven new genetic loci associated with febrile seizures, linking them to fever response and neuronal excitability genes, and suggests potential clinical applications of polygenic risk scores.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

The paper examines how a polygenic score for educational attainment predicts school performance in children with and without psychiatric disorders, finding reduced predictive power in ADHD but not ASD.

This study identifies traits associated with polygenic risk for depression using UK Biobank data and finds causal links between depression risk and brain structure, as well as environmental interactions.

This study performs a meta-analysis of Scandinavian schizophrenia exomes, identifying three genes associated with the disorder and highlighting shared genetic architecture with high-functioning autism.

This study identifies five novel genome-wide significant loci for anxiety disorders and finds significant genetic correlations with depression, insomnia, and coronary artery disease.

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.