DNASTAR Solutions
SeqMan NGen is a High Accuracy NGS Assembler:  Assessment with NA12878 Reference Materials

 

Clinical Research

DNASTAR's Lasergene Genomics Suite includes a full-spectrum of functionality for clinical research. Features of the Lasergene Genomics Suite software include:

  • Streamlined workflows for Mendelian and Cancer Gene Panels
  • Powerful analysis and filtering capabilities for both prospective and retrospective studies
  • Industry leading accuracy of greater than 99.8%
  • Quick assembly of large data sets from all major next-gen technologies on a desktop computer - check out our benchmarks below
  • Ability to identify mutations using live, interactive views and comprehensive filtering tools
  • Direct connection to the dbNSFP, dbSNP, COSMIC and GERP databases
  • The ability to perform large-scale comparisons of SNPs across individuals and groups of individuals, and determine the level of disruption to each gene caused by the SNPs present
  • Streamlined Workflow for Gene Panels

    Quickly narrow your focus to identify variants of interest with a streamlined approach to gene panel data assembly and analysis.

    Discovery of Disease-Causing Gene Mutations

    For more information on using Lasergene Genomics Suite in association studies, please see the following video, which briefly demonstrates the alignment of exome data from 10 individuals with Kabuki syndrome and 8 control individuals against the entire human genome, as well as post-assembly analysis of SNPs. For more details on this project, please see the poster below.

     

    PDF Icon SeqMan NGen is a High Accuracy NGS Assembler: Assessment with NA12878 Reference Materials

     

    PDF Icon Rapid Assembly and Analysis of Clinical Sequencing Data on a Desktop Computer: Using DNASTAR Software to Identify Potential Disease-Causing Mutations

     

    Request a fully-functional, free trial of Lasergene Genomics Suite.

     

     

    Lasergene Genomics Suite Benchmarks for Human Reference-Guided Assemblies

    Data Set
    Sequence Technology
    Reference Sequence
    Genome Size (Mbp)
    Number of Reads (M)
    Number of Bases (Mbp)
    Read Length (bp) Coverage

    Assembly Time**

    Human Genome* Illumina Hg19+dbSNP 3,101 3,523 112,738 32 36X 23 Hrs.
    8 Human Exomes* (multiplex) Illumina

    Hg19+dbSNP

    27 1,268 12,047 76 446X 14 Hrs
    Human Exome*
    Illumina
    27
    163
    12,390
    76
    459X
    2 Hrs.
    Ion AmpliSeq™ Cancer Panel (3 multiplexed data
    sets) Data provided by Ion Torrent.
    Ion Torrent
    3,101
    3
    99
    85 500X
    24 Min.
    Fluidigm® Access Array System (2 multiplexed data
    sets) Data provided by Pacific Biosciences.
    Pacific Biosciences Fluidigm human amplicons 0.1 < 1 7 180 500X 1 Min.

     

    *Data sets for these projects were obtained from NCBI's Short Read Archive.

    **Assembly times were calculated using a computer with a 4-Disk RAID-0.