Sequential sequencing by synthesis and the next-generation sequencing revolution

M Uhlen, SR Quake - Trends in Biotechnology, 2023 - cell.com
The impact of next-generation sequencing (NGS) cannot be overestimated. The technology
has transformed the field of life science, contributing to a dramatic expansion in our …

Decoding enhancer complexity with machine learning and high-throughput discovery

GD Smith, WH Ching, P Cornejo-Páramo, ES Wong - Genome biology, 2023 - Springer
Enhancers are genomic DNA elements controlling spatiotemporal gene expression. Their
flexible organization and functional redundancies make deciphering their sequence-function …

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 …

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 …

[HTML][HTML] Conserved and divergent gene regulatory programs of the mammalian neocortex

NR Zemke, EJ Armand, W Wang, S Lee, J Zhou, YE Li… - Nature, 2023 - nature.com
Divergence of cis-regulatory elements drives species-specific traits, but how this manifests in
the evolution of the neocortex at the molecular and cellular level remains unclear. Here we …

Evolutionary dynamics of genome size and content during the adaptive radiation of Heliconiini butterflies

F Cicconardi, E Milanetti, EC Pinheiro de Castro… - Nature …, 2023 - nature.com
Heliconius butterflies, a speciose genus of Müllerian mimics, represent a classic example of
an adaptive radiation that includes a range of derived dietary, life history, physiological and …

Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation

J Linder, D Srivastava, H Yuan, V Agarwal, DR Kelley - Biorxiv, 2023 - biorxiv.org
Sequence-based machine learning models trained on genome-scale biochemical assays
improve our ability to interpret genetic variants by providing functional predictions describing …

Efficient, formal, material, and final causes in biology and technology

GFR Ellis - Entropy, 2023 - mdpi.com
This paper considers how a classification of causal effects as comprising efficient, formal,
material, and final causation can provide a useful understanding of how emergence takes …

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 …

Genomics expands the mammalverse

NS Upham, MJ Landis - Science, 2023 - science.org
Mammal genomics has progressed at an uneven pace—half sloth, half cheetah—owing to
various technical obstacles, including the complexity of eukaryotic genomes, difficulties …