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Nextflow pipeline for long amplicon typing of PacBio SMRT sequencing data

R 2 3 Updated May 17, 2022

LongQC is a tool for the data quality control of the PacBio and ONT long reads.

C 162 19 Updated Dec 1, 2023

The Pharmacogenomic Clinical Annotation Tool

Java 134 42 Updated Apr 18, 2025

VCF visualization interface

HTML 166 49 Updated May 13, 2025

PDF Report example with a front-page, headers and table

Python 68 20 Updated Apr 1, 2020

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

C 62 21 Updated Apr 20, 2025

Streamlit — A faster way to build and share data apps.

Python 39,325 3,444 Updated May 14, 2025

visualize CNV data from targeted capture based sequencing data

Python 32 10 Updated May 10, 2021

command flow management for dragen

Python 2 1 Updated Sep 30, 2021
Python 4 1 Updated Nov 5, 2021

An ultra-fast all-in-one FASTQ preprocessor (QC/adapters/trimming/filtering/splitting/merging...)

C++ 2,075 340 Updated Apr 16, 2025
C++ 94 17 Updated Sep 21, 2022

R package designed to simplify structural variant analysis

R 72 15 Updated Dec 22, 2021

VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications

Java 83 31 Updated Oct 3, 2024

SV detection from paired end reads mapping

C++ 117 42 Updated Jul 31, 2019

A Flexible Ensemble Framework for Structural Variant Analysis

Python 6 1 Updated Jun 18, 2020

a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads

C++ 221 68 Updated Feb 17, 2022

This Snakemake pipeline implements the GATK best-practices workflow

Python 253 145 Updated Jun 8, 2023

Runs a combination of tools to generate structural variant calls on whole-genome sequencing data

Python 47 10 Updated Jun 2, 2020

A Snakemake workflow for calling small and structural variants under any kind of scenario (tumor/normal, tumor/normal/relapse, germline, pedigree, populations) via the unified statistical model of …

Python 86 42 Updated May 9, 2025

Toolset for SV simulation, comparison and filtering

C++ 378 48 Updated Dec 1, 2023

Snakemake-based workflow for detecting structural variants in genomic data

Python 80 35 Updated Feb 14, 2025

Read visualizer for structural variants

Python 83 15 Updated Aug 18, 2018

Structural variant detection and association testing

C++ 107 25 Updated Feb 2, 2023

Plot structural variant signals from many BAMs and CRAMs

Python 541 70 Updated Jul 13, 2024

Bayesian genotyper for structural variants

Python 132 56 Updated Mar 6, 2021

Tools for processing and analyzing structural variants.

Python 151 55 Updated May 2, 2022

A structural variation pipeline for short-read sequencing

Python 187 75 Updated May 12, 2025

Runs a combination of tools to generate structural variant calls on whole-genome sequencing data

Python 101 39 Updated Nov 5, 2020

Structural variant toolkit for VCFs

Python 356 51 Updated May 6, 2025
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