Single-cell and spatial transcriptomics: deciphering brain complexity in health and disease
In the past decade, single-cell technologies have proliferated and improved from their
technically challenging beginnings to become common laboratory methods capable of …
technically challenging beginnings to become common laboratory methods capable of …
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer's disease
The gene-regulatory landscape of the brain is highly dynamic in health and disease,
coordinating a menagerie of biological processes across distinct cell types. Here, we …
coordinating a menagerie of biological processes across distinct cell types. Here, we …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
Ancestry-inclusive dog genomics challenges popular breed stereotypes
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …
[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …
with a major genetic component. Here, we present a genome-wide association study meta …