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An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.
Some Python/R/* scripts for bioinformatics
Software Suite to calculate metrics in FASTQ/BAM/VCF files and generate visual reports using python scripts
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"
511 contributions in the last year
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