MutAid

MutAid processes raw sequencing data from Sanger, Illumina, 454, and Ion Torrent to detect, call, and annotate base substitutions, insertions, and deletions for human molecular genetics studies.

Key Features:

• Platform Integration: Processes raw sequencing data from Sanger, Illumina, 454, and Ion Torrent within a unified workflow.
• Comprehensive Data Processing: Performs format conversion, base calling, quality trimming, filtering, read mapping, variant calling, and annotation.
• Support for Multiple Tools: Supports read mappers BWA, TMAP, Bowtie, Bowtie2, and GSNAP, and variant callers GATK-HaplotypeCaller, SAMTOOLS, Freebayes, and VarScan2.
• Simultaneous Multi-Patient Analysis: Analyzes multiple patients' datasets in a single run to identify disease-causing base substitutions, insertions, and deletions.

Scientific Applications:

• Human Molecular Genetics: Identification and validation of disease-associated mutations in human genetic studies.
• Clinical and Exploratory Studies: Integration of Sanger and NGS data for exploratory research and clinical diagnostic applications.

Methodology:

Performs format conversion, base calling, quality trimming and filtering, read mapping (BWA, TMAP, Bowtie, Bowtie2, GSNAP), variant calling (GATK-HaplotypeCaller, SAMTOOLS, Freebayes, VarScan2), and annotation on data from Sanger, Illumina, 454, and Ion Torrent.