Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Aging is a nearly inescapable trait among organisms yet lifespan varies tremendously
across different species and spans several orders of magnitude in vertebrates alone. This …

Within the next decade, the genomes of 1.8 million eukaryotic species will be sequenced.
Identifying genes in these sequences is essential to understand the biology of the species …

Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

Energetic local frustration offers a biophysical perspective to interpret the effects of
sequence variability on protein families. Here we present a methodology to analyze local …

The loss of the tail is among the most notable anatomical changes to have occurred along
the evolutionary lineage leading to humans and to the 'anthropomorphous apes',–, with a …

Mitochondrial DNA remains a cornerstone for molecular ecology, especially for study
species from which high‐quality tissue samples cannot be easily obtained. Methods using …

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 …

Abstract Language models pretrained by self-supervised learning (SSL) have been widely
utilized to study protein sequences, while few models were developed for genomic …

Abstract The Human Genome Project was undertaken primarily to discover genetic causes
and better treatments for human diseases. Schizophrenia was targeted since three of the …