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  1. mendelmd

    An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.

    JavaScript 26 5

  2. pynnotator

    This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.

    Python 16 2

  3. bioinformatics_scripts

    Some Python/R/* scripts for bioinformatics

    Python 3 6

  4. ngs_metrics

    Software Suite to calculate metrics in FASTQ/BAM/VCF files and generate visual reports using python scripts

    Python 1

  5. mendelmd_phd_thesis

    This is the public repository of my PHD Thesis entitled: "Mendel,MD: Desenvolvimento e validação de uma ferramenta online para análise de exomas humanos e investigação de doenças Mendelianas"

    TeX 2

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June 2018

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