Highlights for SEQUENCE PILOT version 5.1.0
- Trioanalysis and improved Poolanalysis, also using filter options
- Jumping option to varSEAK and all available external DBs like dbSNP, ClinVar, UK10K, ESP, gnomAD and ExAC
- Sequence Ontology Annotations in the variant table (like stop gained, missense, protein altering)
- Improved data management of result data accelerating data back up and relocation of installations
- New module SEQARRAY for the analysis of your Microarray data
- Updated SNP databases and "knownGene" file - coming soon!
Please note for your validation process that the alignment was improved:
- Stitched overlapping paired end reads to detect variants better at the edge of reads
- Amplicons outside of ROIs used for an accurate mapping and alignment of reads
- Count of total coverage for deletions and insertions at the edge of read
