viral-ngs: command line tools and wrappers for processing raw viral genomic data

using all the bits for echt rapid variant annotation and filtering

A modular annotation tool for genomic variants

MyVariant.info: A BioThings API for human variant annotations

Generic human DNA variant annotation pipeline

Genomic VCF to tab-separated values

A phenotype-based tool for variant prioritization in WES and WGS data

visual analysis of your VCF files

A novel management, annotation, and machine learning framework for analyzing cancer mutations

CADD-SV – a framework to score the effect of structural variants

Clinical machine-learning based interpreter of germline mutations.

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

A Python GUI VCF viewer for SNP, indels, and TE.

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.

This repository contains an analysis pipeline developed to characterize WGS output

A Snakemake workflow for variant calling using GATK4 best practices

A relational database stores per sample based sequencing data.

An empirical variant annotation and data evaluation pipeline.

Variant annotation and filtration server ALAPY Genome Explorer

Repository for miscellaneous bioinformatics scripts that may be useful to others.

Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)

DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis

Genomics population scale utilities for eVai

neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC

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.

WEAP: An automatic and accelerated pipeline for analysing multi-sample whole exome sequencing data

interactive variant tables for easy filtering

WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication

No description provided.

Python wrapper and web-server for Ensembl VEP