Single-cell and spatial transcriptomics: deciphering brain complexity in health and disease

M Piwecka, N Rajewsky, A Rybak-Wolf - Nature Reviews Neurology, 2023 - nature.com
In the past decade, single-cell technologies have proliferated and improved from their
technically challenging beginnings to become common laboratory methods capable of …

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

JD Szustakowski, S Balasubramanian, E Kvikstad… - Nature …, 2021 - nature.com
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
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 …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
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 …

Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer's disease

S Morabito, E Miyoshi, N Michael, S Shahin… - Nature …, 2021 - nature.com
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 …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
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 …

Ancestry-inclusive dog genomics challenges popular breed stereotypes

K Morrill, J Hekman, X Li, J McClure, B Logan… - Science, 2022 - science.org
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …

[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development

RS Ziffra, CN Kim, JM Ross, A Wilfert, TN Turner… - Nature, 2021 - nature.com
During mammalian development, differences in chromatin state coincide with cellular
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

K Hou, Y Ding, Z Xu, Y Wu, A Bhattacharya, R Mester… - Nature …, 2023 - nature.com
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
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

D Demontis, GB Walters, G Athanasiadis, R Walters… - Nature …, 2023 - nature.com
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …