Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

From words to complete phrases: insight into single-cell isoforms using short and long reads

A Joglekar, C Foord, J Jarroux, S Pollard… - Transcription, 2023 - Taylor & Francis
The profiling of gene expression patterns to glean biological insights from single cells has
become commonplace over the last few years. However, this approach overlooks the …

Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain

A Joglekar, W Hu, B Zhang, O Narykov… - Nature …, 2024 - nature.com
RNA isoforms influence cell identity and function. However, a comprehensive brain isoform
map was lacking. We analyze single-cell RNA isoforms across brain regions, cell subtypes …

Systematic analysis of alternative exon-dependent interactome remodeling reveals multitasking functions of gene regulatory factors

JF Roth, U Braunschweig, M Wu, JD Li, ZY Lin… - Molecular Cell, 2023 - cell.com
Alternative splicing significantly expands biological complexity, particularly in the vertebrate
nervous system. Increasing evidence indicates that developmental and tissue-dependent …

[HTML][HTML] Single-cell long-read mRNA isoform regulation is pervasive across mammalian brain regions, cell types, and development

A Joglekar, W Hu, B Zhang, O Narykov, M Diekhans… - bioRxiv, 2023 - ncbi.nlm.nih.gov
RNA isoforms influence cell identity and function. Until recently, technological limitations
prevented a genome-wide appraisal of isoform influence on cell identity in various parts of …

Unsupervised reference-free inference reveals unrecognized regulated transcriptomic complexity in human single cells

R Dehghannasiri, G Henderson, R Bierman, K Chaung… - bioRxiv, 2022 - biorxiv.org
Myriad mechanisms diversify the sequence content of eukaryotic transcripts at the DNA and
RNA level with profound functional consequences. Examples include diversity generated by …

Interrogations of single-cell RNA splicing landscapes with SCASL define new cell identities with physiological relevance

X Xiang, Y He, Z Zhang, X Yang - Nature Communications, 2024 - nature.com
RNA splicing shapes the gene regulatory programs that underlie various physiological and
disease processes. Here, we present the SCASL (single-cell clustering based on alternative …

A statistical, reference-free algorithm subsumes myriad problems in genome science and enables novel discovery

K Chaung, T Baharav, I Zheludev, J Salzman - BioRxiv, 2022 - biorxiv.org
We present a unifying statistical formulation for many fundamental problems in genome
science and develop a reference-free, highly efficient algorithm that solves it. Sequence …

Investigating RNA splicing as a source of cellular diversity using a binomial mixture model

K Isaev, DA Knowles - Machine Learning in Computational …, 2024 - proceedings.mlr.press
Alternative splicing (AS) contributes significantly to RNA and protein variability yet its role in
defining cellular diversity is not fully understood. While Smart-seq2 offers enhanced …

Deep Transcriptomics Reveals Cell-Specific Isoforms of Pan-Neuronal Genes

Z Wolfe, D Liska, AD Norris - bioRxiv, 2024 - biorxiv.org
Profiling gene expression in single neurons using single-cell RNA-Seq is a powerful method
for understanding the molecular diversity of the nervous system. Profiling alternative splicing …