SRMA
SRMA re-aligns short reads from next-generation sequencing (NGS) data by exploiting correlations among reads that observe identical non-reference DNA sequences to improve alignment accuracy and resolve genomic variation.
Key Features:
- Correlation-Based Alignment: Exploits correlations between reads observing the same non-reference DNA sequence instead of aligning each read independently to a reference genome.
- Consensus Resolution: Resolves a consensus underlying DNA sequence from correlated reads to enable more precise characterization of genetic variation.
- Enhanced Genomic Analysis: Leverages collective information from multiple reads to improve identification of single nucleotide polymorphisms (SNPs), other genetic variants, and structural changes.
Scientific Applications:
- Variant Calling: Improves detection of single nucleotide polymorphisms (SNPs) and other genetic variations from NGS short-read data.
- Structural Variant Analysis: Enhances identification of larger genomic rearrangements and structural changes.
- Genomic Research: Facilitates studies requiring precise short-read alignment and accurate variant resolution.
Methodology:
Re-aligns short reads by considering correlations among reads that observe the same non-reference sequences to derive consensus sequences and improve alignment accuracy.
Topics
Details
- License:
- GPL-3.0
- Maturity:
- Mature
- Tool Type:
- command-line tool
- Operating Systems:
- Linux, Mac
- Programming Languages:
- Java, C
- Added:
- 1/13/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Homer N, Nelson SF. Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. Genome Biology. 2010;11(10). doi:10.1186/gb-2010-11-10-r99. PMID:20932289. PMCID:PMC3218665.