Discover raonyguimaraes/mendelmd_phd_thesis Open Source project

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raonyguimaraes

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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"

mendelmd

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

HTML

pynnotator

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

Python

bioinformatics_scripts

Some Python/R/* scripts for bioinformatics

Python

Data-Mining---TP3

Trabalho Prático 3 de Mineração de Dados

Python

BioTorch

Analysis of the 1000Genomes Project to generate personal health reports for each individual

Python

vcfeditor

VCF Editor

bioinfo_pipelines

Python

ufmg

notebooks

My notebooks

Jupyter Notebook

machinelearning

Scripts from Machine Learning Recipes

Python

Torchweb

Biomedical informatics

Talks

python4science

Presentation given at 8º Python Users Group Meeting - Minas Gerais

HTML

projalgbioinfo

Scripts for the discipline of Algorithms for Bioinformatics

Bioinfo-Bows

Python

fast-ngs-admix

Nextflow pipeline for estimating ancestry/admixture proportions of 23andMe files

Nextflow

ngs_metrics

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

Python

exomeAnalysis

A slew of R and Perl scripts to do downstream analysis of the exome capture data. Written largely in Winter 2012 and Spring 2013.

Perl

evervault-cli

evervault CLI for managing and deploying cages

JavaScript

raonyguimaraes/mendelmd_phd_thesis

raonyguimaraes

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