Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain ...

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...

A thorough and accurate characterization of both sequences and phenotypic variation is necessary for a detailed comprehension of how variations in the human genome's sequence influence phenotypic ...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...