Genetic variation, which is generated by mutation, recombination and gene flow, can reduce
the mean fitness of a population, both now and in the future. This 'genetic load'has been …

Transcription factors (TFs) recognize specific DNA sequences to control chromatin and
transcription, forming a complex system that guides expression of the genome. Despite keen …

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 …

Abstract KaKs_Calculator 3.0 is an updated toolkit that is capable of calculating selective
pressure on both coding and non-coding sequences. Similar to the nonsynonymous …

Thanks to the development of high‐throughput sequencing technologies, target enrichment
sequencing of nuclear ultraconserved DNA elements (UCEs) now allows routine inference …

Defining cell types requires integrating diverse single-cell measurements from multiple
experiments and biological contexts. To flexibly model single-cell datasets, we developed …

Thousands of unique non-coding RNA (ncRNA) sequences exist within cells. Work from the
past decade has altered our perception of ncRNAs from'junk'transcriptional products to …

Abstract The RNA World Hypothesis suggests that prebiotic life revolved around RNA
instead of DNA and proteins. Although modern cells have changed significantly in 4 billion …

It is increasingly evident that many of the genomic mutations in cancer reside inside regions
that do not encode proteins. However, these regions are often transcribed into long …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …