Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

S Nieves-Rodriguez, F Barthélémy, JD Woods… - Frontiers in …, 2023 - frontiersin.org
… and healthy TA in our transcriptome-wide analysis. PDK4, … used to identify splicing factors
co-expressed in single cells … the challenges of isoform quantification caused by 3’ bias, low …

[PDF][PDF] Genome-wide CRISPR-Cas9 screen identifies leukemia-specific dependence on a pre-mRNA metabolic pathway regulated by DCPS

T Yamauchi, T Masuda, MC Canver, M Seiler, Y Semba… - Cancer cell, 2018 - cell.com
… of AML cells, with RG3039, and performed RNA sequencing (RNA-seq) to determine
potential transcriptome-wide splicing changes (Figure 4A). Of note, CETSA analysis showed …

Dysregulated Spliceosome Gene Expression May Be a Common Process in Brains of Neurological and Psychiatric Disorders

C Xia, R Dai, J Yu, C Zhang, M Wong, C Liu - 2021 - researchsquare.com
splicing is observed in several neurological and psychiatric disorders. While exonic mutations
usually affect the splicing of an individual RNA, mutations in the splicing … below brie y …

Computational and Machine Learning Methods for Understanding Gene Regulation and Variant Effects

GS Benegas - 2023 - escholarship.org
… the analysis of alternative splicing — a crucial but overlooked step in gene regulation — from
short-read single-cell … Instead of using single cells as replicates, we partitioned the BICCN …

Brain cell-type shifts in Alzheimer's disease, autism, and schizophrenia interrogated using methylomics and genetics

CX Yap, DD Vo, MG Heffel, A Bhattacharya, C Wen… - Science …, 2024 - science.org
single cells from adult human prefrontal cortex (24), we assembled a cell type–specific
reference panel for seven major brain cell … brain expression and splicing quantitative trait locus (…

[图书][B] Genomic characterisation of Alzheimer's disease risk genes using long-read sequencing

SK Leung - 2022 - search.proquest.com
Transcriptome-wide … 2,800 single cells, identifying thousands of cell-speci c novel isoforms
and di erential isoform usage between cell lines for genes enriched in mRNA splicing and cell

Comparative analyses uncover a link between mRNA splicing, stability, and RNA covalent modifications in flowering plants

K Palos, ACN Dittrich, EH Lyons, BD Gregory… - 2024 - researchsquare.com
Brie y, this work ow maps reads to each species’ reference genome (obtained from Ensembl
Plants … Transcriptome-wide analysis of pseudouridylation of mRNA and non-coding RNAs in …

[图书][B] Integrative Omics Data Analysis to Discover Novel Signatures in Complex Diseases

L Pan - 2023 - search.proquest.com
splicing variants with the genetic patterns from different regions of the brain in normal individuals
to identify quantitative … of individual cells, reveal complex and novel cell populations that …

LncSEA 2.0: an updated platform for long non-coding RNA related sets and enrichment analysis

G Zhang, C Song, S Fan, M Yin, X Wang… - Nucleic Acids …, 2024 - academic.oup.com
analysis functions based on GSEA and GSVA. (iv) We adopted the snakemake analysis
pipeline to track data processing and analysis. … variety of enrichment analysis modules, assisting …

Systems biology of deregulated splicing in cancer. A pan-cancer analysis of dysfunctional splicing machinery and alternative splicing events.

L Castillon - 2021 - odr.chalmers.se
… arise from a single cell, which is known as the monoclonal origin of tumors. However, there
… has been studied using RNA-sequencing, which enables transcriptome-wide profiling of the …