[PDF][PDF] 15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
[HTML][HTML] Cognitive impairment in schizophrenia: aetiology, pathophysiology, and treatment
RA McCutcheon, RSE Keefe, PK McGuire - Molecular psychiatry, 2023 - nature.com
Cognitive deficits are a core feature of schizophrenia, account for much of the impaired
functioning associated with the disorder and are not responsive to existing treatments. In this …
functioning associated with the disorder and are not responsive to existing treatments. In this …
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 …
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
[HTML][HTML] Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
[HTML][HTML] The synaptic hypothesis of schizophrenia version III: a master mechanism
OD Howes, EC Onwordi - Molecular Psychiatry, 2023 - nature.com
The synaptic hypothesis of schizophrenia has been highly influential. However, new
approaches mean there has been a step-change in the evidence available, and some tenets …
approaches mean there has been a step-change in the evidence available, and some tenets …
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 …
[HTML][HTML] Complement C1q-dependent excitatory and inhibitory synapse elimination by astrocytes and microglia in Alzheimer's disease mouse models
Microglia and complement can mediate neurodegeneration in Alzheimer's disease (AD). By
integrative multi-omics analysis, here we show that astrocytic and microglial proteins are …
integrative multi-omics analysis, here we show that astrocytic and microglial proteins are …