[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 …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Selection on synonymous sites: the unwanted transcript hypothesis

S Radrizzani, G Kudla, Z Izsvák, LD Hurst - Nature Reviews Genetics, 2024 - nature.com
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 …

The contribution of historical processes to contemporary extinction risk in placental mammals

AP Wilder, MA Supple, A Subramanian, A Mudide… - Science, 2023 - science.org
Species persistence can be influenced by the amount, type, and distribution of diversity
across the genome, suggesting a potential relationship between historical demography and …

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites

G Andrews, K Fan, HE Pratt, N Phalke… - Science, 2023 - science.org
Understanding the regulatory landscape of the human genome is a long-standing objective
of modern biology. Using the reference-free alignment across 241 mammalian genomes …

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 …

Three-dimensional genome rewiring in loci with human accelerated regions

KC Keough, S Whalen, F Inoue, PF Przytycki, T Fair… - Science, 2023 - science.org
Human accelerated regions (HARs) are conserved genomic loci that evolved at an
accelerated rate in the human lineage and may underlie human-specific traits. We …

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 …

[HTML][HTML] A model of human neural networks reveals NPTX2 pathology in ALS and FTLD

M Hruska-Plochan, VI Wiersma, KM Betz, I Mallona… - Nature, 2024 - nature.com
Human cellular models of neurodegeneration require reproducibility and longevity, which is
necessary for simulating age-dependent diseases. Such systems are particularly needed for …