[HTML][HTML] 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 …

Could polygenic risk scores be useful in psychiatry?: a review

GK Murray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibility to
diseases, calculated for individuals as weighted counts of thousands of risk variants in which …

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 …

Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …

[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 …

Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex

KR Maynard, L Collado-Torres, LM Weber… - Nature …, 2021 - nature.com
We used the 10x Genomics Visium platform to define the spatial topography of gene
expression in the six-layered human dorsolateral prefrontal cortex. We identified extensive …

Brain cell type–specific enhancer–promoter interactome maps and disease-risk association

A Nott, IR Holtman, NG Coufal, JCM Schlachetzki, M Yu… - Science, 2019 - science.org
Noncoding genetic variation is a major driver of phenotypic diversity, but functional
interpretation is challenging. To better understand common genetic variation associated with …

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 …