[HTML][HTML] Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

N de Klein, EA Tsai, M Vochteloo, D Baird, Y Huang… - Nature …, 2023 - nature.com
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …

[HTML][HTML] Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

P Deelen, S van Dam, JC Herkert… - Nature …, 2019 - nature.com
The diagnostic yield of exome and genome sequencing remains low (8–70%), due to
incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq …

[PDF][PDF] Transcriptional inhibition of host viral entry proteins as a therapeutic strategy for SARS-CoV-2

X Wang, R Dhindsa, G Povysil, A Zoghbi… - …, 2020 - pdfs.semanticscholar.org
There is an urgent need to identify effective therapies for COVID-19 given that a broadly
available and effective vaccine is likely at least one year away. Here, we identify compounds …

TMPRSS2 transcriptional inhibition as a therapeutic strategy for COVID-19

X Wang, R Dhindsa, G Povysil, A Zoghbi, J Motelow… - 2020 - preprints.org
There is an urgent need to identify effective therapies for COVID-19. The SARS-CoV-2 host
factor protease TMPRSS2 is required for viral entry and thus an attractive target for …

[HTML][HTML] Contiguous erosion of the inactive X in human pluripotency concludes with global DNA hypomethylation

P Bansal, DT Ahern, Y Kondaveeti, CW Qiu, SF Pinter - Cell reports, 2021 - cell.com
Female human pluripotent stem cells (hPSCs) routinely undergo inactive X (Xi) erosion. This
progressive loss of key repressive features follows the loss of XIST expression, the long non …

[HTML][HTML] Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Z Wang, X Fan, Y Shen, MS Pagadala, R Signer… - Genome medicine, 2021 - Springer
Background DNA sequencing is increasingly incorporated into the routine care of cancer
patients, many of whom also carry inherited, moderate/high-penetrance variants associated …

[HTML][HTML] Upregulated expression of SAC3D1 is associated with progression in gastric cancer

AG Liu, JC Zhong, G Chen, RQ He… - International …, 2020 - spandidos-publications.com
Abstract SAC3 domain containing 1 (SAC3D1) has been reported to be involved in
numerous types of cancer. However, the role of SAC3D1 in GC has not yet been elucidated …

SpiderSeqR: an R package for crawling the web of high-throughput multi-omic data repositories for data-sets and annotation

AM Sozanska, C Fletcher, D Bihary, SA Samarajiwa - BioRxiv, 2020 - biorxiv.org
More than three decades ago, the microarray revolution brought about high-throughput data
generation capability to biology and medicine. Subsequently, the emergence of massively …

Genetic Pre-aetiologies and How the Patterns of Mutation Incidence in Cancer Risk Genes Might Suggest a Non-genetic Origin for “Genetic Cancers”

A Hammah - 2022 - search.proquest.com
Cancer is a relatively common disease. This study investigated the hypothesis that mutation
rates are higher in genes that can influence the onset of cancer when mutated than in genes …

[PDF][PDF] Sequencing: van bloed tot brein

J van Rooij - 2020 - repub.eur.nl
Jeroen van Rooij inhoud v4.indd Page 1 Sequencing from blood to brain Jeroen van Rooij
Page 2 Page 3 Sequencing from Blood to Brain Jeroen van Rooij Page 4 Lay-out & printing …