MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq.

ABSTRACT:

Summary

Single-cell DNA template strand sequencing (Strand-seq) allows a range of various genomic analysis including chromosome length haplotype phasing and structural variation (SV) calling in individual cells. Here, we present MosaiCatcher v2, a standardized workflow and reference framework for single-cell SV detection using Strand-seq. This framework introduces a range of functionalities, including: an automated upstream Quality Control (QC) and assembly sub-workflow that relies on multiple genome assemblies and incorporates a multistep normalization module, integration of the single-cell nucleosome occupancy and genetic variation analysis SV functional characterization and of the ArbiGent SV genotyping modules, platform portability, as well as a user-friendly and shareable web

SUBMITTER: Weber T 

PROVIDER: S-EPMC10628386 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature