Document Type
Article
Journal Title
BMC genomics
Publication Date
12-29-2020
Volume
21
Abstract
BACKGROUND: Single-cell sequencing enables us to better understand genetic diseases, such as cancer or autoimmune disorders, which are often affected by changes in rare cells. Currently, no existing software is aimed at identifying single nucleotide variations or micro (1-50 bp) insertions and deletions in single-cell RNA sequencing (scRNA-seq) data. Generating high-quality variant data is vital to the study of the aforementioned diseases, among others.
RESULTS: In this study, we report the design and implementation of Red Panda, a novel method to accurately identify variants in scRNA-seq data. Variants were called on scRNA-seq data from human articular chondrocytes, mouse embryonic fibroblasts (MEFs), and simulated data stemming from the MEF alignments. Red Panda had the highest Positive Predictive Value at 45.0%, while other tools-FreeBayes, GATK HaplotypeCaller, GATK UnifiedGenotyper, Monovar, and Platypus-ranged from 5.8-41.53%. From the simulated data, Red Panda had the highest sensitivity at 72.44%.
CONCLUSIONS: We show that our method provides a novel and improved mechanism to identify variants in scRNA-seq as compared to currently existing software. However, methods for identification of genomic variants using scRNA-seq data can be still improved.
MeSH Headings
RNA-Seq, Single-Cell Analysis, Sequence Analysis, Software DesignRNA
DOI Link
ISSN
1471-2164
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Recommended Citation
Cornish, Adam; Roychoudhury, Shrabasti; Sarma, Krishna; Pramanik, Suravi; Bhakat, Kishor; Dudley, A T.; Mishra, Nitish K.; and Guda, Chittibabu, "Red Panda: A Novel Method for Detecting Variants in Single-Cell RNA Sequencing" (2020). Journal Articles: Genetics, Cell Biology & Anatomy. 46.
https://digitalcommons.unmc.edu/com_gcba_articles/46