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 …

Zinc is an essential trace element that is crucial for growth, development, and the
maintenance of immune function. Its influence reaches all organs and cell types …

Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …

Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is an omics data
consolidator, graphical viewer, and general bioinformatics resource that continues to serve …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

Alzheimer's disease (AD) is the leading cause of dementia in older adults. Although AD
progression is characterized by stereotyped accumulation of proteinopathies, the affected …

N 6-methyladenosine (m6A) is the most abundant messenger RNA (mRNA) modification
and plays crucial roles in diverse physiological processes. Using a massively parallel assay …

Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

How noncoding DNA determines gene expression in different cell types is a major unsolved
problem, and critical downstream applications in human genetics depend on improved …