Genomics England

Comparison of visual estimation of ventricular systolic function with quantitative echocardiographic markers in newborn infants

BACKGROUND: Neonatologist-performed echocardiography (NPE) is increasingly practiced. NPE operators typically use visual estimation of systolic function and, if indicated, confirm function using quantitative echocardiographic markers. This exploratory study aims to compare the co...

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

Revised ACGS variant classification guidelines 2026.

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy

BACKGROUND: Evidence of the diverse genetic architecture of dilated cardiomyopathy (DCM) continues to emerge and requires reassessment of the clinical relevance of implicated disease genes. Building on the 2019-2020 Clinical Genome Resource evaluation, the DCM gene curation exper...