hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data

S Morabito, F Reese, N Rahimzadeh, E Miyoshi… - Cell reports …, 2023 - cell.com
Biological systems are immensely complex, organized into a multi-scale hierarchy of
functional units based on tightly regulated interactions between distinct molecules, cells …

ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2

EK Gustavsson, D Zhang, RH Reynolds… - …, 2022 - academic.oup.com
Motivation The advent of long-read sequencing technologies has increased demand for the
visualization and interpretation of transcripts. However, tools that perform such visualizations …

Accurate isoform discovery with IsoQuant using long reads

AD Prjibelski, A Mikheenko, A Joglekar… - Nature …, 2023 - nature.com
Annotating newly sequenced genomes and determining alternative isoforms from long-read
RNA data are complex and incompletely solved problems. Here we present IsoQuant—a …

Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease

PJ Castaldi, A Abood, CR Farber… - Human Molecular …, 2022 - academic.oup.com
Aberrant splicing underlies many human diseases, including cancer, cardiovascular
diseases and neurological disorders. Genome-wide map** of splicing quantitative trait …

Enhancing novel isoform discovery: leveraging nanopore long-read sequencing and machine learning approaches

K Santucci, Y Cheng, SM Xu… - Briefings in Functional …, 2024 - academic.oup.com
Long-read sequencing technologies can capture entire RNA transcripts in a single
sequencing read, reducing the ambiguity in constructing and quantifying transcript models in …

Map** and modeling the genomic basis of differential RNA isoform expression at single-cell resolution with LR-Split-seq

E Rebboah, F Reese, K Williams… - Genome biology, 2021 - Springer
The rise in throughput and quality of long-read sequencing should allow unambiguous
identification of full-length transcript isoforms. However, its application to single-cell RNA …

High dimensional co-expression networks enable discovery of transcriptomic drivers in complex biological systems

S Morabito, F Reese, N Rahimzadeh, E Miyoshi… - Biorxiv, 2022 - biorxiv.org
Biological systems are immensely complex, organized into a multi-scale hierarchy of
functional units based on tightly-regulated interactions between distinct molecules, cells …

Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

P Lisowski, S Lickfett, A Rybak-Wolf… - Nature …, 2024 - nature.com
Expansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the
neurodegenerative disorder Huntington's disease (HD). Emerging evidence suggests that …

IsoTools: a flexible workflow for long-read transcriptome sequencing analysis

M Lienhard, T van den Beucken, B Timmermann… - …, 2023 - academic.oup.com
Motivation Long-read transcriptome sequencing (LRTS) has the potential to enhance our
understanding of alternative splicing and the complexity of this process requires the use of …

[HTML][HTML] The ENCODE4 long-read RNA-seq collection reveals distinct classes of transcript structure diversity

F Reese, B Williams, G Balderrama-Gutierrez… - bioRxiv, 2023 - ncbi.nlm.nih.gov
The majority of mammalian genes encode multiple transcript isoforms that result from
differential promoter use, changes in exonic splicing, and alternative 3'end choice. Detecting …