Jeffrey C. Barrett

The paper identifies a cross-tissue splicing signature as a biomarker for ReNU syndrome, distinguishing affected individuals from controls with high specificity.

This paper integrates multi-omic data from 46,081 individuals to identify latent factors associated with diseases, showing improved prediction performance compared to single biomarkers.

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

The paper develops metabolomic risk scores from half a million blood samples to predict 12 common diseases, showing they outperform polygenic scores and benefit from repeat measurements.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

This study analyzes within-host genetic diversity in 1,181 SARS-CoV-2 samples, finding high mutation rates, strand asymmetries, and purifying selection, with implications for transmission chain reconstruction.

The paper presents an open resource for fine-mapping and gene prioritization at GWAS loci, identifying causal variants and genes and improving drug target identification.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

This study identifies HLA-DQA1*05 as a genetic risk factor for anti-drug antibody development in Crohn's disease patients treated with anti-TNF therapies.

The paper uses genome-wide association studies to show human and pneumococcal genetic variation influences susceptibility and severity of pneumococcal meningitis.

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

The paper shows that common genetic variants contribute to risk and clinical variation in severe neurodevelopmental disorders, even in individuals with known monogenic diagnoses.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The paper identifies de novo mutations in fetal-brain active regulatory elements as a cause of 1-3% of neurodevelopmental disorders in patients without coding variants.

The paper identifies shared expression patterns of genetic variants across tissues and cell types, enabling fine mapping of disease-associated variants and revealing key cell types involved in disease pathogenesis.

The paper describes the design of an intuitive web application for drug discovery scientists to improve data utilization and research advancement.

The paper identifies a rare variant in the NLRP7 gene associated with increased risk of ulcerative colitis through exome sequencing and genotyping in IBD families and cohorts.

The paper identifies 91 genes associated with neurodevelopmental disorders but highlights critical statistical flaws in the analysis that reduce the validity of the findings.