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The gold standard resource for comprehensive data on published human inherited disease ...

    • 170,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
    • 6,800+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes
    • Advanced search functionality, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region


Workbench Modules
For enhancing functionalities of CLC Genomics Workbench, Biomedical Genomics Workbench, ...
    • The modules have an intuitive and user-friendly interface
    • They incorporate cutting-edge technology and algorithms
CLC Main Workbench
For advanced DNA, RNA, and protein analyses
    • A comprehensive workbench for advanced DNA, RNA, and protein analyses
    • An intuitive graphical user-interface
    • Support for efficient data sharing between colleagues and collaborators
    • Frequent updates with the latest scientific developments
CLC Assembly Cell
A high-performance computing solution for mapping reads to a reference and de novo ...
    • Read mapping of Illumina, Pacific Biosciences, Ion Torrent, SOLiD, and 454 sequencing data

    • De novo assembly of Illumina, Pacific Biosciences, Ion Torrent and 454 sequencing data

    • Support for both short read and long read assembly and mapping

CLC Genomics Workbench
For analyzing, comparing, and visualizing next-generation sequencing data
    • Cross-platform desktop application with an intuitive and user-friendly interface
    • Incorporates cutting-edge technology and algorithms
    • Includes numerous features in genomics, transcriptomics, and epigenomics
    • Supports all major next-generation sequencing platforms
For researching and cross-referencing syndrome information
    • Provides detailed information about key clinical attributes
    • Differential diagnoses can be made
    • Helps in the diagnosis of patient syndromes by providing imaging and genetics