GBRS
GBRS reconstructs individual diploid genomes and quantifies total and allele-specific gene expression from RNA-Seq data in multiparent populations (MPPs).
Key Features:
- Genotype-Free Genome Reconstruction: Reconstructs diploid genomes without requiring high-density genotyping arrays by leveraging RNA-Seq data from MPPs.
- Alignment to Founder Transcriptomes: Simultaneously aligns RNA-Seq reads to the transcriptomes of inbred founder strains to resolve genetic origin of reads.
- Quantification of Total and Allele-Specific Expression: Produces estimates of both total gene expression and allele-specific expression using RNA-Seq alignments.
- Incorporation of Polymorphic Loci: Incorporates known polymorphic loci into individualized transcriptomes to improve expression quantification and genotype inference.
- Quality Control for Sample Integrity: Detects sample mix-ups or contamination by comparing reconstructed genomes or expression patterns to expected founder contributions.
- Computational Efficiency: Implements a streamlined approach to reduce computational demands associated with constructing and analyzing individualized genomes in diverse populations.
Scientific Applications:
- Analysis of Multiparent Populations (MPPs): Enables genome reconstruction and expression analysis in MPPs derived from multiple inbred founder strains.
- Gene Expression Regulation Studies: Facilitates investigation of regulatory mechanisms by quantifying allele-specific and total expression across individuals.
- Candidate Gene Identification for Complex Traits: Supports identification of candidate genes by linking reconstructed genotypes and expression variation in genetically diverse cohorts.
- Quality Control in Genomic Experiments: Provides a genomic integrity check to identify sample swaps or contamination in RNA-Seq datasets.
Methodology:
GBRS aligns RNA-Seq reads to founder strain transcriptomes and leverages known polymorphic loci incorporated into individualized transcriptomes to reconstruct individual diploid genomes and quantify total and allele-specific gene expression.
Topics
Details
- License:
- GPL-3.0
- Tool Type:
- command-line tool
- Programming Languages:
- Python
- Added:
- 1/18/2021
- Last Updated:
- 1/22/2021
Operations
Publications
Choi K, Lloyd MW, He H, Gatti DM, Philip VM, Raghupathy N, Vincent M, Lek S, Gyuricza IG, Munger SC, Attie AD, Keller M, Chesler EJ, Broman KW, Srivastava A, Churchill GA. Genotype-free individual genome reconstruction of Multiparental Population Models by RNA sequencing data. Unknown Journal. 2020. doi:10.1101/2020.10.11.335323.
Downloads
- Binariesftp://churchill-lab.jax.org/software/GBRS/
- Container filehttps://hub.docker.com/r/kbchoi/gbrs