snv
There are 40 repositories under snv topic.
nf-core/raredisease
Call and score variants from WGS/WES of rare disease patients.
XWangLabTHU/cfDNApipe
cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data
sigven/gvanno
Generic human DNA variant annotation pipeline
zhengxwen/SeqArray
Data management of large-scale whole-genome sequence variant calls (Development version only)
cancerit/dockstore-cgpwgs
Dockstore implementation of CGP core WGS analysis
adigorla/xgap
xGAP is an efficient, modular, extensible and fault-tolerant pipeline for massively parallelized genomic analysis/variant discovery from next-generation DNA sequencing data.
waqasuddinkhan/MACARON-GenMed-LabEx
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
dbmi-bgm/granite
A collection of software to work with genomic variants
TNTurnerLab/acorn
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.
chadlaing/feht
Predictive marker discovery for groups; binary data, genomic data (single nucleotide variants), arbitrary character data.
bcgsc/ntRoot
🌳 Human ancestry inference from genomic data
jingxinfu/TCGAdnloader
TCGA hg19 and hg38 data downloader.
cancerit/dockstore-cgpwxs
Dockstore implementation of CGP core WXS analysis
nickveltmaat/SNVcaller
Pipeline to call SNV's with 4 tools (VarDict, LoFreq, Mutect2 & SiNVICT)
nriddiford/mutationProfiles
Extract and explore snv data
TC-Hewitt/MuTrigo
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).
TomMakesThings/Cancer-Evolution
Estimates the clonal population structure in a tumour sample given a cell mutation matrix
xjtu-omics/ChineseQuartetGenome
Genome assembly and variant benchmarks for Chinese Quartet
Computational-Genomics-BSC/plink-bed-reader
Lightweight and memory efficient reader for PLINK BED files. It supports both SNP-major and individual-major formats. Written in pure Python.
anbianchi/IntegratedSNVINDELSandCNV
An adaptable method for analyzing SNVs, INDELs, and CNVs from Whole Exome Sequencing (WES) data, emphasizing germline variants.
ashudva/SNV-Business
Front-End for SNV Business firm
auroramaurizio/my_DNA_seq_pipelines
In this repository I backup the pipelines I write for the project I am involved
EUCANCan/prepy-wrapper
Wrapper for pre.py from Illumina's hap.py package. It is used to preprocess VCF files in order to normalize SNVs and indels for downstream analysis.
ghga-de/nf-snvcalling
a Nextflow SNV calling and annotation pipeline based on DKFZ-ODCF/SNVCallingWorkflow
Mahsa-Ehsanifard/maftools
maftools for SNV mutation analysis, summarizes, and visualization
shewa12/svn-guide-to-upload-wp-plugin
This guide outlines a step-by-step process for managing your WordPress plugin to add/update in the WordPress repository using SVN (Subversion). SVN is a version control system that helps you track changes, collaborate with others, and maintain a history of your project.
bdolmo/CeLAuth
Cell Line Authentication from ChIP-seq data
jiatuya/SNV_prediction_model
Note: This is a detailed Intro to this project. A brief users guide can be found at users_guide.md
laura-budurlean/GATK-WGS-Pipeline
GATK WGS workflow
wennj/pileupReformater
Convert output from Samtools pileup into a matrix.
xndrxssx/cotton_candy_spectral_analysis
Diretório com os algoritmos de pré-processamento e modelos para análise de dados espectrais da uva de mesa Cotton Candy.
auroramaurizio/WES_ESOCA
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
NCI-CGR/HPV_low_VAF_SNV_prediction
Predicting true low-VAF SNVs in HPV using triplicate NGS samples and machine learning
oicr-gsi/varscan
varscan repo contains code for Varscan workflow
petermchale/genomics-web-app
vue app with flask REST api to process genomic data
tsar123/neutral-single-nucleotide-polymorphisms-analysis
analysis of data on neutral single nucleotide polymorphisms