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Mar 10, 2018
variant-annotations
Here are 32 public repositories matching this topic...
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
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Nov 20, 2023 - Python
Python wrapper and web-server for Ensembl VEP
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Apr 20, 2017 - Python
interactive variant tables for easy filtering
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Jun 24, 2021 - R
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
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May 17, 2024 - Python
Variant annotation and filtration server ALAPY Genome Explorer
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May 22, 2017 - Shell
A chamada de variantes envolve a identificação de polimorfismos de nucleotídeo único (SNPs) e pequenas inserções e deleções (indels) em dados de Sequenciamento de Nova Geração (NGS). Nesta pipeline descrevo a detecção de SNP para identificação de possíveis alterações de aminoácidos em proteínas virais.
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Jan 27, 2022 - Shell
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
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Mar 24, 2021 - Python
A command line tool for predicting gene expression using genotypic data
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May 18, 2023 - Python
This is a public repo to introduce Omni and collect issues and feedback.
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Feb 2, 2019
Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files
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Oct 1, 2021 - Python
An empirical variant annotation and data evaluation pipeline.
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Mar 1, 2022 - Python
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
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Mar 17, 2022 - HTML
A relational database stores per sample based sequencing data.
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Apr 25, 2023 - Python
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
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Mar 10, 2023 - Python
Repository for miscellaneous bioinformatics scripts that may be useful to others.
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Feb 7, 2017 - Python
This repository contains an analysis pipeline developed to characterize WGS output
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Jan 21, 2024 - HTML
A Snakemake workflow for variant calling using GATK4 best practices
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Feb 2, 2024 - Python
CADD-SV – a framework to score the effect of structural variants
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May 8, 2024 - Python
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