Applications of machine learning to diagnosis and treatment of neurodegenerative diseases

MA Myszczynska, PN Ojamies, AMB Lacoste… - Nature reviews …, 2020 - nature.com
Globally, there is a huge unmet need for effective treatments for neurodegenerative
diseases. The complexity of the molecular mechanisms underlying neuronal degeneration …

Maintenance, reserve and compensation: the cognitive neuroscience of healthy ageing

R Cabeza, M Albert, S Belleville, FIM Craik… - Nature Reviews …, 2018 - nature.com
Cognitive ageing research examines the cognitive abilities that are preserved and/or those
that decline with advanced age. There is great individual variability in cognitive ageing …

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

MA Nalls, C Blauwendraat, CL Vallerga… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …

[HTML][HTML] Genome-wide association studies of brain imaging phenotypes in UK Biobank

LT Elliott, K Sharp, F Alfaro-Almagro, S Shi, KL Miller… - Nature, 2018 - nature.com
The genetic architecture of brain structure and function is largely unknown. To investigate
this, we carried out genome-wide association studies of 3,144 functional and structural brain …

Robust machine learning segmentation for large-scale analysis of heterogeneous clinical brain MRI datasets

B Billot, C Magdamo, Y Cheng… - Proceedings of the …, 2023 - National Acad Sciences
Every year, millions of brain MRI scans are acquired in hospitals, which is a figure
considerably larger than the size of any research dataset. Therefore, the ability to analyze …

Chromatin-state discovery and genome annotation with ChromHMM

J Ernst, M Kellis - Nature protocols, 2017 - nature.com
Noncoding DNA regions have central roles in human biology, evolution, and disease.
ChromHMM helps to annotate the noncoding genome using epigenomic information across …

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

R Karlsson Linnér, P Biroli, E Kong, SFW Meddens… - Nature …, 2019 - nature.com
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …

[HTML][HTML] Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

G Davies, M Lam, SE Harris, JW Trampush… - Nature …, 2018 - nature.com
General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

RK Walters, R Polimanti, EC Johnson… - Nature …, 2018 - nature.com
Liability to alcohol dependence (AD) is heritable, but little is known about its complex
polygenic architecture or its genetic relationship with other disorders. To discover loci …