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Covering The Gaps

RetiGene is an expert-curated atlas of genes involved in inherited retinal diseases, integrating variant data and gene expression. This open-access, continually updated resource aims to support varian...

This study analyzes RNA-sequencing data by converting gene-expression profiles into images that encode gene-gene interactions. This image-based representation, processed through deep learning to extra...

We cataloged 1,729 circulating metabolites from two metabolomics core laboratories among eight studies. We provided recommendations for TOPMed metabolite data harmonization and processing. We also pro...

Allele-specific RNA interference silences the mutant PACS1 transcript causing Schuurs-Hoeijmakers syndrome, a rare neurodevelopmental disorder. RNA sequencing of cells from affected individuals reveal...

RNA sequencing in rare disease is conventionally used to resolve the effect of a variant on a single gene. Here, we apply a transcriptome-wide approach to detect disorders of the minor spliceosome. Th...

Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural…

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation…

European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

European Journal of Human Genetics - The European Certificate in Medical Genetics and Genomics (ECMGG)

09/18/2025

a Consortium of 21 research groups in the field of inherited retinal diseases (IRDs)

An infant with an inherited life-threatening metabolic condition has responded to a tailored therapy that uses the gene-editing tool CRISPR to correct a specific mutation.