sc-SPLASH provides ultra-efficient reference-free discovery in barcoded single-cell sequencing.

Fuente: PubMed
Saved in:
Bibliographic Details
Main Authors: Dehghannasiri, Roozbeh, Kokot, Marek, Starr, Alexander L, Maziarz, Jamie, Gordon, Tal, Tan, Serena Y, Wang, Peter L, Voskoboynik, Ayelet, Musser, Jacob M, Deorowicz, Sebastian, Salzman, Julia
Format: Artículo científico
Language:en
Published: bioRxiv : the preprint server for biology 2024
Online Access:
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1868266260606746625
author Dehghannasiri, Roozbeh
Kokot, Marek
Starr, Alexander L
Maziarz, Jamie
Gordon, Tal
Tan, Serena Y
Wang, Peter L
Voskoboynik, Ayelet
Musser, Jacob M
Deorowicz, Sebastian
Salzman, Julia
author_facet Dehghannasiri, Roozbeh
Kokot, Marek
Starr, Alexander L
Maziarz, Jamie
Gordon, Tal
Tan, Serena Y
Wang, Peter L
Voskoboynik, Ayelet
Musser, Jacob M
Deorowicz, Sebastian
Salzman, Julia
Dehghannasiri, Roozbeh
Kokot, Marek
Starr, Alexander L
Maziarz, Jamie
Gordon, Tal
Tan, Serena Y
Wang, Peter L
Voskoboynik, Ayelet
Musser, Jacob M
Deorowicz, Sebastian
Salzman, Julia
collection PubMed - marine biology
contents sc-SPLASH provides ultra-efficient reference-free discovery in barcoded single-cell sequencing. Dehghannasiri, Roozbeh Kokot, Marek Starr, Alexander L Maziarz, Jamie Gordon, Tal Tan, Serena Y Wang, Peter L Voskoboynik, Ayelet Musser, Jacob M Deorowicz, Sebastian Salzman, Julia Typical high-throughput single-cell RNA-sequencing (scRNA-seq) analyses are primarily conducted by (pseudo)alignment, through the lens of annotated gene models, and aimed at detecting differential gene expression. This misses diversity generated by other mechanisms that diversify the transcriptome such as splicing and V(D)J recombination, and is blind to sequences missing from imperfect reference genomes. Here, we present sc-SPLASH, a highly efficient pipeline that extends our SPLASH framework for statistics-first, reference-free discovery to barcoded scRNA-seq (10x Chromium) and spatial transcriptomics (10x Visium); we also provide its optimized module for preprocessing and -mer counting in barcoded data, BKC, as a standalone tool. sc-SPLASH rediscovers known biology including V(D)J recombination and cell-type-specific alternative splicing in human and trans-splicing in tunicate () and when applied to spatial datasets, detects sequence variation including tumor-specific somatic mutation. In sponge () and tunicate (), we uncover secreted repeat proteins expressed in immune-type cells and regulated during development; the sponge genes were absent from the reference assembly. sc-SPLASH provides a powerful alternative tool for exploring transcriptomes that is applicable to the breadth of life's diversity.
format Artículo científico
id pubmed_39763839
institution PubMed
language en
publishDate 2024
publisher bioRxiv : the preprint server for biology
record_format pubmed
spellingShingle sc-SPLASH provides ultra-efficient reference-free discovery in barcoded single-cell sequencing.
Dehghannasiri, Roozbeh
Kokot, Marek
Starr, Alexander L
Maziarz, Jamie
Gordon, Tal
Tan, Serena Y
Wang, Peter L
Voskoboynik, Ayelet
Musser, Jacob M
Deorowicz, Sebastian
Salzman, Julia
sc-SPLASH provides ultra-efficient reference-free discovery in barcoded single-cell sequencing. Dehghannasiri, Roozbeh Kokot, Marek Starr, Alexander L Maziarz, Jamie Gordon, Tal Tan, Serena Y Wang, Peter L Voskoboynik, Ayelet Musser, Jacob M Deorowicz, Sebastian Salzman, Julia Typical high-throughput single-cell RNA-sequencing (scRNA-seq) analyses are primarily conducted by (pseudo)alignment, through the lens of annotated gene models, and aimed at detecting differential gene expression. This misses diversity generated by other mechanisms that diversify the transcriptome such as splicing and V(D)J recombination, and is blind to sequences missing from imperfect reference genomes. Here, we present sc-SPLASH, a highly efficient pipeline that extends our SPLASH framework for statistics-first, reference-free discovery to barcoded scRNA-seq (10x Chromium) and spatial transcriptomics (10x Visium); we also provide its optimized module for preprocessing and -mer counting in barcoded data, BKC, as a standalone tool. sc-SPLASH rediscovers known biology including V(D)J recombination and cell-type-specific alternative splicing in human and trans-splicing in tunicate () and when applied to spatial datasets, detects sequence variation including tumor-specific somatic mutation. In sponge () and tunicate (), we uncover secreted repeat proteins expressed in immune-type cells and regulated during development; the sponge genes were absent from the reference assembly. sc-SPLASH provides a powerful alternative tool for exploring transcriptomes that is applicable to the breadth of life's diversity.
title sc-SPLASH provides ultra-efficient reference-free discovery in barcoded single-cell sequencing.
url https://pubmed.ncbi.nlm.nih.gov/39763839/