Evolutionary constraint and innovation across hundreds of placental mammals
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 …
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …
A genomic timescale for placental mammal evolution
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 …
mammals remain controversial. We provide a comprehensive phylogenetic analysis of …
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites
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 …
of modern biology. Using the reference-free alignment across 241 mammalian genomes …
The functional and evolutionary impacts of human-specific deletions in conserved elements
Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …
phenotypic traits. We identified and characterized 10,032 human-specific conserved …
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
Protein-coding differences between species often fail to explain phenotypic diversity,
suggesting the involvement of genomic elements that regulate gene expression such as …
suggesting the involvement of genomic elements that regulate gene expression such as …
Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs
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 …
diphtheria antitoxin to Nome, Alaska, in 1925, using evolutionary constraint estimates from …
Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
A Roy, S Sakthikumar, SV Kozyrev… - Proceedings of the …, 2023 - National Acad Sciences
Current knowledge of cancer genomics remains biased against noncoding mutations. To
systematically search for regulatory noncoding mutations, we assessed mutations in …
systematically search for regulatory noncoding mutations, we assessed mutations in …
Bayesian estimation of gene constraint from an evolutionary model with gene features
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 …
clinical interpretation of rare coding variants, disease gene discovery, and studies of …
[PDF][PDF] Understanding and modeling human traits and diseases: Insights from the comparative genomics resources of Zoonomia
M Ye, DF Zhang - The Innovation, 2023 - Elsevier
Understanding the genetic architecture of complex human traits and diseases is one of the
major aims of biomedical research. Genetic research, such as genome-wide association …
major aims of biomedical research. Genetic research, such as genome-wide association …
[PDF][PDF] Human genetics seen through an evolutionary lens
CP Ponting - Cell Genomics, 2023 - cell.com
Most DNA bases crucial for species perpetuation are marked by a dearth of sequence
change among species related over long evolutionary time. Recently, Christmas et al. 1 and …
change among species related over long evolutionary time. Recently, Christmas et al. 1 and …