Towards a comprehensive catalogue of validated and target-linked human enhancers
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 …
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 …
higher cognitive functions. These capacities are tightly linked to an increase in the size and …
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 …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
PlantRegMap: charting functional regulatory maps in plants
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 …
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 …
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
Organoid single-cell genomic atlas uncovers human-specific features of brain development
The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …
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
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 …
mood and anhedonia. Depression has a heritable component that has remained difficult to …
The trans-ancestral genomic architecture of glycemic traits
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 …
health. To date, most genetic studies of glycemic traits have focused on individuals of …