MU2A
MU2A reconciles genome and transcriptome sequences to map and annotate sequence variants from next-generation sequencing data and predict their effects on protein products.
Key Features:
- Reconciliation of Genome-Transcriptome Differences: MU2A maps transcript-derived variants to genomic coordinates to clarify sequence discrepancies between genomic and transcriptomic data.
- Rapid and Accurate Annotation: MU2A annotates variants quickly and reliably to support interpretation of variant impacts on proteins.
Scientific Applications:
- Next-generation sequencing (NGS) variant mapping: MU2A maps variants detected by next-generation sequencing from transcript data back to their genomic origins.
- Gene expression regulation studies: MU2A enables analysis of how transcript-level variants relate to genomic sequence changes affecting gene expression.
- Disease association analyses: MU2A supports linking transcript-derived variants to genomic loci for studies of disease-associated genetic variation.
- Functional characterization of genetic variants: MU2A aids prediction of variant effects on protein products for functional interpretation of sequence changes.
Methodology:
The methodology underlying MU2A involves sophisticated algorithms that reconcile differences between genome and transcriptome datasets.
Topics
Details
- Maturity:
- Legacy
- Tool Type:
- web application
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- Java
- Added:
- 1/13/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Garla V, Kong Y, Szpakowski S, Krauthammer M. MU2A—reconciling the genome and transcriptome to determine the effects of base substitutions. Bioinformatics. 2010;27(3):416-418. doi:10.1093/bioinformatics/btq658. PMID:21149339. PMCID:PMC3031033.