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  • Please click on the adjacent screen to view the detailed screenshot
  • NEW  Powerful Copy Number Variation (CNV) detection
  • NEW  Detection of gene fusions and chromosomal rearrangements
  • NEW  Analysis of FFPE samples
  • NEW  Handling of molecular tags (smSMIPs, Haloplex HS,...)
  • NEW  Analysis of Repeat Regions
  • Compatible with data produced by all main next-generation platforms such as Illumina TM (HiSeq, NextSeq, MiniSeq & MiSeq), Life TechnologiesTM (SOLiD, Ion Proton & Ion Torrent), PacBioTM, Roche/454TM (GS-FLX & GS Junior),
  • Support of all main enrichment kits, e.g. from IlluminaTM, LifeTechTM, FluidgmTM,  AgilentTM, QiagenTM, Multiplicom MASTR assays, Devyser, as well as homemade panels, no matter if PCR or sequence capture based
  • Detection of SNPs, deletions and insertions of any length
  • Adaptable settings for analysis and variation/mutation calling, also in case of mosaics
  • Easy installation of genomes like hg19 or hg38
  • Easy setup of ROIs for individual genes or gene-panels and larger sets of genes via import of bed- or manifest-files
  • Adjustable filters for pseudogene and homology background
  • SNP-databases dbSNP, 1000 Genomes, COSMIC, ClinVar and CLINVITAE are available for individual display and filter functions
  • All results for one patient are shown on one screen, inlcuding found variations/mutations, amino acid changes and HGVS c. and p. nomenclature
  • Data import / export from / to any LIMS system; connection to AlamutTM and Cartagenia; result export in vcf-file formate
  • Warnings for low quality, low coverage, no basecalling and drop-outs
  • Detailed summary of coverages and quality, including information about "unused reads"
  • Internal mutation database keeping track of mutation detection history
  • Detailed sequencing report for individual patients/orders
  • Parallel data analysis on multiple computers/cores
  • Runs on 32 bit and 64 bit PC systems
  • and much more ...

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