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 …

Although translational selection to favour codons that match the most abundant tRNAs is not
readily observed in humans, there is nonetheless selection in humans on synonymous …

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 …

Remnants of transposable elements (TEs) are widely expressed throughout mammalian
embryo development. Originally infesting our genomes as selfish elements and acting as a …

Sensory neurons in the dorsal root ganglion (DRG) and trigeminal ganglion (TG) are
specialized to detect and transduce diverse environmental stimuli to the central nervous …

Most genetic variants associated with psychiatric disorders are located in noncoding regions
of the genome. To investigate their functional implications, we integrate epigenetic data from …

Transposable elements (TE) are repetitive genomic elements that harbor binding sites for
human transcription factors (TF). A regulatory role for TEs has been suggested in embryonal …

Pre-trained large language models demonstrate potential in extracting information from DNA
sequences, yet adapting to a variety of tasks and data modalities remains a challenge. To …

Abstract Transposable elements (TEs) comprise~ 50% of our genome, but knowledge of
how TEs affect genome evolution remains incomplete. Leveraging ENCODE4 data, we …

Gene expression is temporally and spatially regulated by the interaction of transcription
factors (TFs) and cis-regulatory elements (CREs). The uneven distribution of TF binding sites …