Call and score variants from WGS/WES of rare disease patients.
-
Updated
Aug 15, 2024 - Nextflow
Call and score variants from WGS/WES of rare disease patients.
cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data
Generic human DNA variant annotation pipeline
Data management of large-scale whole-genome sequence variant calls (Development version only)
xGAP is an efficient, modular, extensible and fault-tolerant pipeline for massively parallelized genomic analysis/variant discovery from next-generation DNA sequencing data.
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
acorn is an R package that examines various features of de novo variants including subsetting DNVs by individual, variant type, or genomic region; calculating features including variant change counts, lengths, and presence/absence at CpG sites; and characteristics of parental age and number of DNVs.
A collection of software to work with genomic variants
Predictive marker discovery for groups; binary data, genomic data (single nucleotide variants), arbitrary character data.
🌳 Human ancestry inference from genomic data
Pipeline for gene candidate discovery based on mutagenesis. Featured in gene cloning research published in Nature (DOIs: 10.1038/s41467-020-14937-2, 10.1038/s41467-021-23738-0, 10.1038/s41477-021-00971-5), Molecular Plant (DOI: 10.1016/j.molp.2021.05.010) and New Phytologist (DOI: 10.1111/nph.17075).
Estimates the clonal population structure in a tumour sample given a cell mutation matrix
Pipeline to call SNV's with 4 tools (VarDict, LoFreq, Mutect2 & SiNVICT)
Extract and explore snv data
Genome assembly and variant benchmarks for Chinese Quartet
Add a description, image, and links to the snv topic page so that developers can more easily learn about it.
To associate your repository with the snv topic, visit your repo's landing page and select "manage topics."