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Genuity Science
- Dublin - Ireland
- https://raonyguimaraes.com
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pynnotator Public
This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.
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ngs_metrics Public
Software Suite to calculate metrics in FASTQ/BAM/VCF files and generate visual reports using python scripts
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mendelmd_phd_thesis Public
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
18 contributions in the last year
Contribution activity
January 2023
Created 2 repositories
Created an issue in rgcgithub/regenie that received 1 comment
Regenie website too slow
Hi there, Just want to report that the regenie website https://rgcgithub.github.io/regenie/faq/ is taking a very very long time to load pages. Mayb…