DownloadMutAid: Sanger and NGS based integrated pipeline for mutation identification, validation and annotation in molecular diagnosis.
MutAid is an integrated pipeline for mutation screening in clinical research. It can analyze Sanger sequencing and NGS data from raw reads to list of annotated mutation list.
MutAid can analyze and interpret raw sequencing data produced by Sanger or several NGS sequencing platforms. It performs format conversion, base calling, quality trimming, filtering, read mapping, variant calling, variant annotation and co-analyze Sanger and NGS data under a single platform. It is capable of analyzing reads from multiple patients in a single run to create a list of potential disease causing base substitutions as well as deletions and insertions. MutAid has been developed for expert and non-expert users and supports four sequencing platforms (Sanger, Illumina, 454 and Ion Torrent) and five read mappers including BWA,TMAP, Bowtie,Bowtie2 and GSNAP and four variant callers
Features
- Clinical research
- Molecular diagnostics
- Sanger and NGS
- Gene panel testing
- hotspot mutation
- Next Generation Sequencing
- Exome sequencing
- Diagnostic sequencing
- Personalized medicine
Project Samples
