Genomics (United Kingdom)

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicent...

A cytogenetic analysis with chromosome painting in typical antbirds (Passeriformes, Thamnophilidae) and an inference on chromosome evolution in Passeriformes

Abstract The typical antbirds (Passeriformes, Thamnophilidae) are a monophyletic group comprising 225 species in 45 genera, primarily distributed in the lowland forests of the Neotropics. There is limited karyotypic information for this bird family, including chromosome morpholog...

A GWAS META-ANALYSIS OF PSYCHOTIC DEPRESSION LEVERAGING HEALTH-RECORD, PRESCRIPTION AND SELF-REPORT DATA

Depression with psychotic features is poorly understood, and the extent to which its biology is shared with other psychosis disorders is unclear. There is evidence for a genetic basis for MDD, but there has not been a major GWAS of the phenotype. We are conducting the first GWAS...

Genetic literacy assessment among medical students using the Indonesian adaptation of the University of North Carolina Genomic Knowledge Scale

Abstract Background Implementation of personalized medicine requires greater genetic literacy among current and future healthcare workers. A standardized Indonesian-language genetic literacy questionnaire is essential for assessment. Objective To translate the University of North...

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Revised ACGS variant classification guidelines 2026.

Recruiting a geographically, ethnically and socioeconomically diverse population of postpartum women into a behavioural weight management intervention trial: an evaluation of strategies used in the Supporting MumS (SMS) randomised controlled trial

Abstract Background Engaging women in behavioural weight management interventions in the postpartum period has proved challenging. Previous trials of such interventions have frequently experienced issues with participant recruitment and retention and recruited samples have been s...

Adaptive optics imaging in bilateral vitelliform maculopathy

This report presents the clinical, electrophysiological and multimodal imaging findings of an individual with bilateral vitelliform maculopathy. Adaptive optics imaging enables in vivo visualisation of retinal microstructure at cellular resolution, providing a detailed baseline f...