[HTML][HTML] Genetic architecture of Alzheimer's disease

SM Neuner, TCW Julia, AM Goate - Neurobiology of disease, 2020 - Elsevier
Advances in genetic and genomic technologies over the last thirty years have greatly
enhanced our knowledge concerning the genetic architecture of Alzheimer's disease (AD) …

Genetic variants in mRNA untranslated regions

M Steri, ML Idda, MB Whalen… - Wiley Interdisciplinary …, 2018 - Wiley Online Library
Genome Wide Association Studies (GWAS) have mapped thousands of genetic variants
associated with complex disease risk and regulating quantitative traits, thus exploiting an …

Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection

V Ramlall, PM Thangaraj, C Meydan, J Foox, D Butler… - Nature medicine, 2020 - nature.com
Understanding the pathophysiology of SARS-CoV-2 infection is critical for therapeutic and
public health strategies. Viral–host interactions can guide discovery of disease regulators …

Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis

M Dapas, FTJ Lin, GN Nadkarni, R Sisk, RS Legro… - PLoS …, 2020 - journals.plos.org
Background Polycystic ovary syndrome (PCOS) is a common, complex genetic disorder
affecting up to 15% of reproductive-age women worldwide, depending on the diagnostic …

Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

S Larivière, J Royer, R Rodríguez-Cruces… - Nature …, 2022 - nature.com
Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations,
but associations between neurobiological mechanisms and macroscale connectomics …

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

M Pividori, PS Rajagopal, A Barbeira, Y Liang… - Science …, 2020 - science.org
Large-scale genomic and transcriptomic initiatives offer unprecedented insight into complex
traits, but clinical translation remains limited by variant-level associations without biological …

Convergence between biological, behavioural and genetic determinants of obesity

S Ghosh, C Bouchard - Nature Reviews Genetics, 2017 - nature.com
Multiple biological, behavioural and genetic determinants or correlates of obesity have been
identified to date. Genome-wide association studies (GWAS) have contributed to the …

Biophysical and mechanistic models for disease-causing protein variants

A Stein, DM Fowler, R Hartmann-Petersen… - Trends in biochemical …, 2019 - cell.com
The rapid decrease in DNA sequencing cost is revolutionizing medicine and science. In
medicine, genome sequencing has revealed millions of missense variants that change …

Phenotype prediction and genome-wide association study using deep convolutional neural network of soybean

Y Liu, D Wang, F He, J Wang, T Joshi, D Xu - Frontiers in genetics, 2019 - frontiersin.org
Genomic selection uses single-nucleotide polymorphisms (SNPs) to predict quantitative
phenotypes for enhancing traits in breeding populations and has been widely used to …

An integrative approach for building personalized gene regulatory networks for precision medicine

MGP Van Der Wijst, DH de Vries, H Brugge… - Genome medicine, 2018 - Springer
Only a small fraction of patients respond to the drug prescribed to treat their disease, which
means that most are at risk of unnecessary exposure to side effects through ineffective …