Call and score variants from WGS/WES of rare disease patients.
workflow pipeline nextflow diagnostics variant-calling wgs snv wes variant-annotation structural-variants nf-core rare-disease
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- Nextflow
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snv
Here are 50 public repositories matching this topic...
cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data
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- Python
Generic human DNA variant annotation pipeline
docker workflow gene singularity vcf variants snv vep disease-gene-association indels annotation-tool vcfanno germline variant-annotations annotation-framework snvs
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- Python
Data management of large-scale whole-genome sequence variant calls using GDS files (Development version only)
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- C++
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.
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🌳 Scalable ancestry from genomic data
genome ancestry snv genome-assembly genomic-data-analysis ancestrydna genomic-data ancestry-inference sequencing-data snv-call
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- Python
xGAP is an efficient, modular, extensible and fault-tolerant pipeline for massively parallelized genomic analysis/variant discovery from next-generation DNA sequencing data.
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- Python
Flexible Trio DNV detection on existing VCFs.
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- Python
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
github python vcf gatk variants snp annotator macaron snv annotation-framework snpeff snv-annotation codon snpcluster pcsnv
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- Python
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.
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- R
A collection of software to work with genomic variants
vcf variants snv variant-filtration variant-analysis snvs trio de-novo-mutation single-nucleotide-variation de-novo-mutations compound-heterozygous
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- Python
Predictive marker discovery for groups; binary data, genomic data (single nucleotide variants), arbitrary character data.
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- Haskell
Genome assembly and variant benchmarks for Chinese Quartet
snv genome-assembly structural-variants indel chinese-quartet variant-benchmark haplotype-resolved-assembly
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- Python
Extract and explore snv data
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- R
An adaptable method for analyzing SNVs, INDELs, and CNVs from Whole Exome Sequencing (WES) data, emphasizing germline variants.
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- Python
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).
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- Python
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