Single-cell multi-omics technologies and methods characterize cell states and activities by
simultaneously integrating various single-modality omics methods that profile the …

Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

Quantitative evaluation of tissue images is crucial for computational pathology (CPath) tasks,
requiring the objective characterization of histopathological entities from whole-slide images …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

The genetic make-up of an individual contributes to the susceptibility and response to viral
infection. Although environmental, clinical and social factors have a role in the chance of …

The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

For more than two decades, the UCSC Genome Browser database (https://genome. ucsc.
edu) has provided high-quality genomics data visualization and genome annotations to the …

Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …