ReQTL: Identifying correlations between expressed SNVs and gene expression using RNA-sequencing data

LF Spurr, N Alomran, P Bousounis… - …, 2020 - academic.oup.com
… We describe a method to correlate VAF RNA with gene expression and assess its ability to
… have served as a major tool to uncover genetic variants regulating phenotypic features. QTL …

Unravelling the complex genetics of common kidney diseases: from variants to mechanisms

KM Sullivan, K Susztak - Nature Reviews Nephrology, 2020 - nature.com
… induces a quantitative change in gene expression. Therefore, … To identify potential genes
involved in chronic kidney … with kidney function that uniquely influenced gene expression in the …

Statistical Methods for Allele-Specific Expression Analysis by RNA Sequencing

J Fan - 2020 - search.proquest.com
… of regulatory variants that impact gene expression, rather than amino acid changes. Data on
Genetic-variation-driven gene-expression changes highlight genes with important functions

[PDF][PDF] ReQTL: Identifying correlations between expressed SNVs and gene expression using RNA-sequencing

L Spurr, N Alomran, P Bousounis - Bioinformatics - academia.edu
… tool to uncover genetic variants regulating phenotypic features. QTL methods have been
successfully applied to a variety of molecular traits, including gene expression (eQTL), splicing (…

ASEP: Gene-based detection of allele-specific expression across individuals in a population by RNA sequencing

J Fan, J Hu, C Xue, H Zhang, K Susztak, MP Reilly… - … genetics, 2020 - journals.plos.org
… that impact gene expression, rather than amino acid changes. Data on gene expression
from … Results from our analysis shed light on the functional roles of GWAS identified genetic …

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

JM Eales, X Jiang, X Xu, S Saluja, A Akbarov… - … genetics, 2021 - nature.com
changes in splicing do not display a concomitant change in … kidney DNA methylation with
gene expression and alternative … , but many play essential biological roles of yet unknown …

Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease

N Sandholm, JB Cole, V Nair, X Sheng, H Liu… - Diabetologia, 2022 - Springer
… For the 29 lead genes, we studied gene expression in kidneys in human transcriptomics …
only for 29 genes and two tissues), including fibrosis at first biopsy and change in the mesangial …

Unraveling the epigenetic code: human kidney DNA methylation and chromatin dynamics in renal disease development

Y Yan, H Liu, A Abedini, X Sheng, M Palmer… - Nature …, 2024 - nature.com
gene expression changes, most notably those playing role in … underlying genetic
variation-driven methylation changes may … , we examined gene expression changes driven by …

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

H Liu, T Doke, D Guo, X Sheng, Z Ma, J Park, HMT Vy… - … genetics, 2022 - nature.com
… Our recent studies indicate that regulatory variants could play a role in modulating gene
expression changes during development (for example, Uncx and Shroom3) and these genes

ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules

D Mukhi, L Li, H Liu, T Doke… - The Journal of …, 2024 - Am Soc Clin Investig
… : human kidney gene expression and methylation quantitative … We did not observe a change
in the expression of genes … models will be essential to study the role of other genes at this …