Repository for miscellaneous bioinformatics scripts that may be useful to others.
-
Updated
Feb 7, 2017 - Python
Repository for miscellaneous bioinformatics scripts that may be useful to others.
Python wrapper and web-server for Ensembl VEP
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files
An empirical variant annotation and data evaluation pipeline.
DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis
Genomic VCF to tab-separated values
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.
A relational database stores per sample based sequencing data.
A Python GUI VCF viewer for SNP, indels, and TE.
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
A Snakemake workflow for variant calling using GATK4 best practices
Generic human DNA variant annotation pipeline
CADD-SV – a framework to score the effect of structural variants
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
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
MyVariant.info: A BioThings API for human variant annotations
Viral genomics analysis pipelines
Add a description, image, and links to the variant-annotations topic page so that developers can more easily learn about it.
To associate your repository with the variant-annotations topic, visit your repo's landing page and select "manage topics."