scSNV: accurate dscRNA-seq SNV co-expression analysis using duplicate tag collapsing

Abstract Identifying single nucleotide variants has become common practice for droplet-based single-cell RNA-seq experiments; however, presently, a pipeline does not exist to maximize variant calling accuracy. Furthermore, molecular duplicates generated in these experiments have not been utilized to optimally detect variant co-expression. Herein, we introduce scSNV designed from the ground up to “collapse” molecular duplicates and accurately identify variants and their co-expression. We demonstrate that scSNV is fast, with a reduced false-positive variant call rate, and enables the co-detection of genetic variants and A>G RNA edits across twenty-two samples..

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:22

Enthalten in:

Genome biology - 22(2021), 1 vom: 07. Mai

Sprache:

Englisch

Beteiligte Personen:

Wilson, Gavin W. [VerfasserIn]
Derouet, Mathieu [VerfasserIn]
Darling, Gail E. [VerfasserIn]
Yeung, Jonathan C. [VerfasserIn]

Links:

Volltext [kostenfrei]

BKL:

42.13 / Molekularbiologie / Molekularbiologie

42.20 / Genetik / Genetik

Themen:

Alignment
Genetic variation
Single-cell RNA-seq
Variant calling

Anmerkungen:

© The Author(s) 2021

doi:

10.1186/s13059-021-02364-5

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

OLC2125344041