Harnessing endophenotypes and network medicine for Alzheimer's drug repurposing

J Fang, AA Pieper, R Nussinov, G Lee… - Medicinal research …, 2020 - Wiley Online Library
Following two decades of more than 400 clinical trials centered on the “one drug, one target,
one disease” paradigm, there is still no effective disease‐modifying therapy for Alzheimer's …

Bringing radiomics into a multi-omics framework for a comprehensive genotype–phenotype characterization of oncological diseases

M Zanfardino, M Franzese, K Pane, C Cavaliere… - Journal of translational …, 2019 - Springer
Genomic and radiomic data integration, namely radiogenomics, can provide meaningful
knowledge in cancer diagnosis, prognosis and treatment. Despite several data structures …

[PDF][PDF] Identification of risk genes for Alzheimer's disease by gene embedding

Y Lagisetty, T Bourquard, I Al-Ramahi, CG Mangleburg… - Cell genomics, 2022 - cell.com
Most disease-gene association methods do not account for gene-gene interactions, even
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …

Exploration of tools for the interpretation of human non-coding variants

N Tabarini, E Biagi, P Uva, E Iovino, T Pippucci… - International Journal of …, 2022 - mdpi.com
The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection
range, revealing the presence of variants even in non-coding regions of the genome, which …

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

GW Beecham, B Vardarajan, E Blue, W Bush… - Neurology …, 2018 - AAN Enterprises
Objective To identify genetic variation influencing late-onset Alzheimer disease (LOAD), we
used a large data set of non-Hispanic white (NHW) extended families multiply-affected by …

Scalable approaches for functional analyses of whole-genome sequencing non-coding variants

PP Kuksa, E Greenfest-Allen, J Cifello… - Human Molecular …, 2022 - academic.oup.com
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …

Alzheimer's disease variant portal: a Catalog of genetic findings for Alzheimer's disease

PP Kuksa, CL Liu, W Fu, L Qu, Y Zhao… - Journal of …, 2022 - content.iospress.com
Background: Recent Alzheimer's disease (AD) genetics findings from genome-wide
association studies (GWAS) span progressively larger and more diverse populations and …

Genetic variation in genes underlying diverse dementias may explain a small proportion of cases in the Alzheimer's Disease Sequencing Project

EE Blue, JC Bis, MO Dorschner, DW Tsuang… - Dementia and geriatric …, 2018 - karger.com
Abstract Background/Aims: The Alzheimer's Disease Sequencing Project (ADSP) aims to
identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to …

PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection

ZZ Tang, GR Sliwoski, G Chen, B Jin, WS Bush, B Li… - Genome biology, 2020 - Springer
Germline disease-causing variants are generally more spatially clustered in protein 3-
dimensional structures than benign variants. Motivated by this tendency, we develop a fast …

Integration of protein structure and population-scale DNA sequence data for disease gene discovery and variant interpretation

B Li, B Jin, JA Capra, WS Bush - Annual Review of Biomedical …, 2022 - annualreviews.org
The experimental and computational techniques for capturing information about protein
structures and genetic variation within the human genome have advanced dramatically in …