variant-annotations

Viral genomics analysis pipelines

MyVariant.info: A BioThings API for human variant annotations

A modular annotation tool for genomic variants

echt rapid variant annotation and filtering

Generic germline variant annotation pipeline

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

Genomic VCF to tab-separated values

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

Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104

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

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.

Variant annotation and filtration server ALAPY Genome Explorer

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

Clinical machine-learning based interpreter of germline mutations.

An empirical variant annotation and data evaluation pipeline.

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

A relational database stores per sample based sequencing data.

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

Containerized GATK4 Whole Exome-sequencing Pipeline

Workshop for variant calling in Translational Pathology Center, SGH

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.

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

Python wrapper and web-server for Ensembl VEP

interactive variant tables for easy filtering

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

This is a public repo to introduce Omni and collect issues and feedback.

Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files