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 …

Deep cis-regulatory homology of the butterfly wing pattern ground plan

A Mazo-Vargas, AM Langmüller, A Wilder… - Science, 2022 - science.org
Butterfly wing patterns derive from a deeply conserved developmental ground plan yet are
diverse and evolve rapidly. It is poorly understood how gene regulatory architectures can …

A comparative analysis of planarian genomes reveals regulatory conservation in the face of rapid structural divergence

M Ivanković, JN Brand, L Pandolfini, T Brown… - Nature …, 2024 - nature.com
The planarian Schmidtea mediterranea is being studied as a model species for
regeneration, but the assembly of planarian genomes remains challenging. Here, we report …

A chromosome-level reference genome and pangenome for barn swallow population genomics

S Secomandi, GR Gallo, M Sozzoni, A Iannucci… - Cell reports, 2023 - cell.com
Insights into the evolution of non-model organisms are limited by the lack of reference
genomes of high accuracy, completeness, and contiguity. Here, we present a chromosome …

False-positive IRESes from Hoxa9 and other genes resulting from errors in mammalian 5′ UTR annotations

C Akirtava, GE May… - Proceedings of the …, 2022 - National Acad Sciences
Hyperconserved genomic sequences have great promise for understanding core biological
processes. It has been recently proposed that scores of hyperconserved 5′ untranslated …

Improving the performance of supervised deep learning for regulatory genomics using phylogenetic augmentation

AG Duncan, JA Mitchell, AM Moses - Bioinformatics, 2024 - academic.oup.com
Motivation Supervised deep learning is used to model the complex relationship between
genomic sequence and regulatory function. Understanding how these models make …

Addiction-associated genetic variants implicate brain cell type-and region-specific cis-regulatory elements in addiction neurobiology

C Srinivasan, BDN Phan, AJ Lawler… - Journal of …, 2021 - Soc Neuroscience
Recent large genome-wide association studies have identified multiple confident risk loci
linked to addiction-associated behavioral traits. Most genetic variants linked to addiction …

Relating enhancer genetic variation across mammals to complex phenotypes using machine learning

IM Kaplow, AJ Lawler, DE Schäffer, C Srinivasan… - Science, 2023 - science.org
Protein-coding differences between species often fail to explain phenotypic diversity,
suggesting the involvement of genomic elements that regulate gene expression such as …

Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements

ME Wirthlin, TA Schmid, JE Elie, X Zhang, A Kowalczyk… - Science, 2024 - science.org
Vocal production learning (“vocal learning”) is a convergently evolved trait in vertebrates. To
identify brain genomic elements associated with mammalian vocal learning, we integrated …

Inferring mammalian tissue-specific regulatory conservation by predicting tissue-specific differences in open chromatin

IM Kaplow, DE Schäffer, ME Wirthlin, AJ Lawler… - BMC genomics, 2022 - Springer
Background Evolutionary conservation is an invaluable tool for inferring functional
significance in the genome, including regions that are crucial across many species and …