NIHR BioResource

Genome-wide genetic overlap between fear-based disorders and generalised anxiety disorder

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.

Genome-wide association study of adolescent-onset depression

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

Genome-wide analyses of quantitative generalised anxiety symptom severity

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.

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.