Call and score variants from WGS/WES of rare disease patients.
-
Updated
May 29, 2024 - Nextflow
Call and score variants from WGS/WES of rare disease patients.
In this repository I backup the pipelines I write for the project I am involved
GCAP (Gene-level Circular Amplicon Prediction) firstly implements extrachromosomal DNA detection from whole-exome-sequencing (WES) data and absolute copy number profiles. https://shixiangwang.r-universe.dev/gcap
Data management of large-scale whole-genome sequence variant calls (Development version only)
A pipeline for detecting Somatic Insertion of DE novo RETROcopies
The DKFZ alignment workflow plugin originally developed at the eilslabs
Transcriptional variant verification to validate predicted variants from genomic data in expressed transcripts
Whole exome sequencing snakemake workflow based on GATK best practice
SCHeMa (Scheduler for scientific Containers on clusters of Heterogeneous Machines) is an open source platform to facilitate the execution and reproducibility of computational experiments on heterogeneous clusters.
GUI coupled to a local database that centralize all NGS variant data and annotations, and to provide powerful filtering tools that are easily accessible to the biologist.
Whole Genome Sequencing analysis, WGS analysis
WES pipeline with customizable scoring system based on 10 criteria.
WES workflow API
The snakemake workflow for whole-exome sequencing analysis and generating vcf files
Add a description, image, and links to the wes topic page so that developers can more easily learn about it.
To associate your repository with the wes topic, visit your repo's landing page and select "manage topics."