The gene ontology knowledgebase in 2023

SA Aleksander, J Balhoff, S Carbon, JM Cherry… - Genetics, 2023 - academic.oup.com
Abstract The Gene Ontology (GO) knowledgebase (http://geneontology. org) is a
comprehensive resource concerning the functions of genes and gene products (proteins …

Dissecting polygenic signals from genome-wide association studies on human behaviour

A Abdellaoui, KJH Verweij - Nature Human Behaviour, 2021 - nature.com
Genome-wide association studies on human behavioural traits are producing large amounts
of polygenic signals with significant predictive power and potentially useful biological clues …

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 …

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 …

[HTML][HTML] Comparative cellular analysis of motor cortex in human, marmoset and mouse

TE Bakken, NL Jorstad, Q Hu, BB Lake, W Tian… - Nature, 2021 - nature.com
The primary motor cortex (M1) is essential for voluntary fine-motor control and is functionally
conserved across mammals. Here, using high-throughput transcriptomic and epigenomic …

The Gene Ontology resource: enriching a GOld mine

Nucleic acids research, 2021 - academic.oup.com
Abstract The Gene Ontology Consortium (GOC) provides the most comprehensive resource
currently available for computable knowledge regarding the functions of genes and gene …

[PDF][PDF] Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer's disease pathology

H Mathys, Z Peng, CA Boix, MB Victor, N Leary, S Babu… - Cell, 2023 - cell.com
Alzheimer's disease (AD) is the most common cause of dementia worldwide, but the
molecular and cellular mechanisms underlying cognitive impairment remain poorly …

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 …

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 …

Molecular signatures underlying neurofibrillary tangle susceptibility in Alzheimer's disease

M Otero-Garcia, SU Mahajani, D Wakhloo, W Tang… - Neuron, 2022 - cell.com
Tau aggregation in neurofibrillary tangles (NFTs) is closely associated with
neurodegeneration and cognitive decline in Alzheimer's disease (AD). However, the …