Archer Analysis Pipeline updates, Version 2.1
The Archer Analysis Pipeline Version 2.1 has the following new features and bug fixes:
Improved detection of complex gene fusions
After mapping of the reads with Burrow Wheeler Alignment (BWA), we have improved the sensitivity of fusion detection by using BLAST and MUSCLE to find the correct mapping of the consensus to the genome.
Reporting of targeted mutations
Provide a Variant Call Format (VCF) file of a list of mutations you are interested in and the system will only report on those mutations. It will report “PRESENT” for mutations of interest that were found, “NOT PRESENT” for those locations that are homozygous references, or “NO CALL” for locations which there is no coverage.
Improved handling of very deeply sequenced samples
Samples with more than 3 million reads per sample previously could result in a job that finished with errors. We have corrected this issue in version 2.1.