Interpretation and analysis of the NGS data

DxSeq provides NGS data analysis for a variety of genomic applications including targeted resequencing, exome and whole genome sequencing.
With robust tools for cancer gene panels and human disease diagnostics, you can complete your entire analysis on a single platform.

Input Fast Files
Output QC File, BAM File
Excel Annotation/Interpretation file with multiple sheets(pathogenic variants, all variants, Gene CNV, info)
Visualized Chromosomal CNV files(whole genome view, single chromosome view)
Visualized Gene CNV files
PDF Report Pages(if requested)*





SNP/Indels Callings






ACMG Classification

DxSeq Benefits

  • Cloud-based
  • Accessible online, anywhere, anytime
  • User-friendly interface
  • Variant pathogenicity interpretation based on ACMG guideline
  • Analysis of Paired/Single End data
  • Batch management and analysis of multiple samples in the batch context
  • Advanced options for customized filtering/annotation
  • QC file development
  • Comprehensive annotation (population/diseases databases and predictive tools)
  • SNP Detection
  • Indel Detection
  • Gene/Exon Copy Number Variation (CNV) detection
  • Chromosomal CNV detection
  • Low False Positive Rate
  • Automatic final report page generation
  • Applicable to any Targeted Gene Panel

Key Features

Comprehensive Annotation

Helps you see as much information as possible in a glance, including ACMG criteria and population/diseases databases and predictive tools.

Gene CNVs

Visualized gene CNV analysis for each and every Gene in the Panel illustrating Gene/Exon Copy Number Variations

Chromosomal CNVs

Visualized chromosomal CNV analysis illustrated in genome plot and 23 single chromosome plots