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desouzareis's starred repositories

Exomiser

A Tool to Annotate and Prioritize Exome Variants

Language:JavaAGPL-3.020000

LiftOn

🚀 LiftOn: Accurate annotation mapping for GFF/GTF across assemblies

Language:PythonGPL-3.05900

VGC

Variant Graph Craft (VGC) is an interactive genomic variant visualization program.

Language:JavaGPL-3.0800

jigv

igv.js standalone page generator and automatic configuration to view bam/cram/vcf/bed. "working in under 1 minute"

Language:NimMIT12200

deepsomatic

DeepSomatic is an analysis pipeline that uses a deep neural network to call somatic variants from tumor-normal and tumor-only sequencing data.

BSD-3-Clause13200

open-cravat

A modular annotation tool for genomic variants

Language:JavaScriptMIT11300

somaticseq

An ensemble approach to accurately detect somatic mutations using SomaticSeq

Language:PythonBSD-2-Clause19200

haplogrep3

Free mtDNA Haplogroup Classification Service

Language:JavaMIT2100

neat-genreads

NEAT read simulation tools

Language:PythonNOASSERTION9500

miniwdl-aws

Extends miniwdl to run workflows on AWS Batch & EFS

Language:PythonMIT2000

pyGenomeViz

A genome visualization python package for comparative genomics

Language:PythonMIT27300

mme-apis

Documentation for the MatchmakerExchange APIs

Language:HTML3400

igv-reports

Python application to generate self-contained pages embedding IGV visualizations, with no dependency on original input files.

Language:PythonMIT34700

hgvs

Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

Language:PythonApache-2.024000

variant-remapping

The pipeline for remapping VCF variants between two arbitrary FASTA assemblies.

Language:PythonApache-2.0500

Liftoff

An accurate GFF3/GTF lift over pipeline

Language:PythonGPL-3.042800

srf

SRF: Satellite Repeat Finder

Language:TeXMIT8600

aws-genomics-workflows

Genomics Workflows on AWS

Language:ShellMIT-014100

sv-cnv-studies

:books: Relevant papers for CNV and SV approaches

9400