Pinned

1. mendelmd

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

   JavaScript 33 7

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 19 3

3. bioinformatics_scripts

   Some Python/R/* scripts for bioinformatics

   Python 5 6

4. bioinfo_pipelines

   Python 1

5. ngs_metrics

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

   Python 1 1

6. 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