Towards a comprehensive catalogue of validated and target-linked human enhancers

M Gasperini, JM Tome, J Shendure - Nature Reviews Genetics, 2020 - nature.com
The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

Developmental mechanisms underlying the evolution of human cortical circuits

P Vanderhaeghen, F Polleux - Nature Reviews Neuroscience, 2023 - nature.com
The brain of modern humans has evolved remarkable computational abilities that enable
higher cognitive functions. These capacities are tightly linked to an increase in the size and …

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 …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

PlantRegMap: charting functional regulatory maps in plants

F Tian, DC Yang, YQ Meng, J Jin… - Nucleic acids research, 2020 - academic.oup.com
With the goal of charting plant transcriptional regulatory maps (ie transcription factors (TFs),
cis-elements and interactions between them), we have upgraded the TF-centred database …

A comparative genomics multitool for scientific discovery and conservation

Nature, 2020 - nature.com
Abstract The Zoonomia Project is investigating the genomics of shared and specialized traits
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Organoid single-cell genomic atlas uncovers human-specific features of brain development

S Kanton, MJ Boyle, Z He, M Santel, A Weigert… - Nature, 2019 - nature.com
The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

DM Howard, MJ Adams, TK Clarke, JD Hafferty… - Nature …, 2019 - nature.com
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …