Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
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 …

A genomic timescale for placental mammal evolution

NM Foley, VC Mason, AJ Harris, KR Bredemeyer… - Science, 2023 - science.org
The precise pattern and timing of speciation events that gave rise to all living placental
mammals remain controversial. We provide a comprehensive phylogenetic analysis of …

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 …

DNA language models are powerful predictors of genome-wide variant effects

G Benegas, SS Batra, YS Song - Proceedings of the …, 2023 - National Acad Sciences
The expanding catalog of genome-wide association studies (GWAS) provides biological
insights across a variety of species, but identifying the causal variants behind these …

The functional and evolutionary impacts of human-specific deletions in conserved elements

JR Xue, A Mackay-Smith, K Mouri, MF Garcia… - Science, 2023 - science.org
Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …

Bayesian estimation of gene constraint from an evolutionary model with gene features

T Zeng, JP Spence, H Mostafavi, JK Pritchard - Nature Genetics, 2024 - nature.com
Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

​ Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

KL Moon, HJ Huson, K Morrill, MS Wang, X Li… - Science, 2023 - science.org
We reconstruct the phenotype of Balto, the heroic sled dog renowned for transporting
diphtheria antitoxin to Nome, Alaska, in 1925, using evolutionary constraint estimates from …

Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements

S Iñiguez-Muñoz, P Llinàs-Arias… - Cellular and Molecular …, 2024 - Springer
Discoveries in the field of genomics have revealed that non-coding genomic regions are not
merely" junk DNA", but rather comprise critical elements involved in gene expression. These …

[HTML][HTML] Comprehensive analyses of 435 goat transcriptomes provides insight into male reproduction

H Xu, S Zhang, Q Duan, M Lou, Y Ling - International Journal of Biological …, 2024 - Elsevier
A systematic analysis of genes related to reproduction is crucial for obtaining a
comprehensive understanding of the molecular mechanisms that underlie male reproductive …