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Variant scoring and linkage mapping for family exome sequencing. MendelScan is a tool for prioritizing candidate variants in family-based studies of inherited disease.

Specifications

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Operating system:
Unix/Linux
Programming languages:
Java
License:
GNU General Public License version 2.0
Computer skills:
Advanced
Stability:
Stable
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Documentation & support

Maintainer

  • Daniel C. Koboldt <dkoboldt at genome.wustl.edu>

Credits

Institution(s)

The Genome Institute at Washington University, St. Louis, MO 63108, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77025, USA; Ocular Genomics Institute, Harvard Medical School, Boston, MA 02114, USA; Hussman Institute of Human Genomics, University of Miami, Miami, FL 33101, USA

Publications

  • (Koboldt et al., 2014) Exome-based mapping and variant prioritization for inherited Mendelian disorders. American journal of human genetics.
    PMID: 24560519

Classification

  • Animals
    • Homo sapiens

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