[HTML][HTML] The evolution of aging and lifespan

S Li, JM Vazquez, PH Sudmant - Trends in Genetics, 2023 - cell.com
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 …

CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
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 …

[HTML][HTML] Genome annotation: From human genetics to biodiversity genomics

R Guigó - Cell Genomics, 2023 - cell.com
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 …

The landscape of tolerated genetic variation in humans and primates

H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Identification of constrained sequence elements across 239 primate genomes

LFK Kuderna, JC Ulirsch, S Rashid, M Ameen… - Nature, 2024 - nature.com
Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

Self-supervised learning on millions of primary RNA sequences from 72 vertebrates improves sequence-based RNA splicing prediction

K Chen, Y Zhou, M Ding, Y Wang, Z Ren… - Briefings in …, 2024 - academic.oup.com
Abstract Language models pretrained by self-supervised learning (SSL) have been widely
utilized to study protein sequences, while few models were developed for genomic …

The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression

Q Wang, KM Clark, R Tiwari, N Raju, GK Tharp… - Cell, 2024 - cell.com
While CD4+ T cell depletion is key to disease progression in people living with HIV and SIV-
infected macaques, the mechanisms underlying this depletion remain incompletely …

Local energetic frustration conservation in protein families and superfamilies

MI Freiberger, V Ruiz-Serra, C Pontes… - Nature …, 2023 - nature.com
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 …

On the genetic basis of tail-loss evolution in humans and apes

B **a, W Zhang, G Zhao, X Zhang, J Bai, R Brosh… - Nature, 2024 - nature.com
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 …

Species-aware DNA language models capture regulatory elements and their evolution

A Karollus, J Hingerl, D Gankin, M Grosshauser… - Genome biology, 2024 - Springer
Background The rise of large-scale multi-species genome sequencing projects promises to
shed new light on how genomes encode gene regulatory instructions. To this end, new …