Agile sequence analysis
Desktop programs for analyzing massively parallel sequence data
The Agile suite of programs allows the rapid analysis of clonal sequencing data, aligned to the human genome, with a view to identifying disease-causing sequence variants. It comprises several component programs, each with its own user guide and download page, as described below:
AgileVariantViewer identifying a PXDN variant that causes congenital cataract, corneal opacity, and glaucoma (citation).
Fastq and Fasta file manipulation and read quality filtering
Can combine paired end read sequences that overlap to form a single read and quality score string.
Allows the filtering out of low quality sequences, with the exported data formatted as either FASTA or FASTQ. If the reads are 5′‑end tagged with sample identifiers, the program will also sort and remove the tags from the output data.
Sam file manipulation
Sorts the aligned sequence reads in an unordered SAM file by chromosome number and position.
Combines two or more ordered SAM files to create a single ordered file.
Autozygosity mapping with exome data
Creates a pseudo-microarray SNP genotyping file from an ordered SAM file containing exon sequence data. The file will contain the genotype data at over 0.5 million SNP sites previously identified by the 1000 Genomes project. Such a file can then be used as a data source for a mapping program designed for analyzing Affymetrix microarray SNP data (see Genetic mapping).
Visualises sequence variant data from whole exome data, allowing the identification of autozygous regions in consanguineous individuals. The data can originate from files exported by AgileGenotyper, AgileAnnotator, AgileVariantViewer or a tab-delimited text file formatted as described in the user guide webpage.
Germline mutation detection
Reads an ordered SAM file and identifies any sequence variant located in a protein-coding exon or within 50 bp of a splice site.
Analyzes sequence variants exported by AgileAnnotator and identifies those previously found in the 1000 Genomes project.
Reformats data in tab-delimited text files to a format that can be imported into AgileVariantViewer or AgileFileViewer. Since many commercial NGS service providers supply variant data in tab-delimited text files, AgileFileConverter allows such data to be analyzed by the Agile suite of programs.
Allows variants identified by AgileAnnotator and optionally filtered by AgileKnownSNPFilter to be interactively filtered by read depth and by allele read depth ratio. AgileVariantViewer can then export sequence variants for the whole genome, a single chromosome or a chromosomal region.
Allows sequence variants exported from AgileVariantViewer to be filtered, by identifying the genes within which they are located, and then performing a textual data search on those genes, using information from UniProt.
Reads a sequence variant file created by AgileAnnotator (or one filtered by either AgileKnownSNPFilter or AgileVariantViewer) and displays associated information for each variant.
Filtering the output from AlamutHT or Pindel
Enables the rapid filtering, sorting and screening of single-base variants as well as small indels derived from an exome-sequencing experiment and annotated by AlamutHT, allowing the rapid detection of possibly deleterious variants.
Enables the rapid filtering and screening of indel variants derived from an exome-sequencing experiment and annotated by Pindel, to allow the rapid detection of possibly deleterious variants.
Somatic mutation detection
Identifies somatic sequence variants occurring at specific genomic positions and uses unaligned next-generation sequence data.
Identifies somatic sequence variants occurring at all positions within a PCR product and uses unaligned next-generation sequence data.