Version 5.1.0 is Now Available !!!

Some of the highlights: Trioanalysis, jumping option to varSEAK and all available public SNP databases, Sequence Ontology Annotations...

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