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.

Documentation