The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Abstract Purpose Structural variants (SVs) play an important role in inherited retinal
diseases (IRD). Although the identification of SVs significantly improved upon the availability …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …

Long non-coding RNAs (lncRNAs) are known to perform important regulatory functions in
lipid metabolism. Large-scale whole-genome sequencing (WGS) studies and new statistical …

VarCards, an online database, combines comprehensive variant-and gene-level annotation
data to streamline genetic counselling for coding variants. Recognising the increasing …