VCCRI / dv-trioLinks
dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCFs) created by DeepVariants are then co_called together using GATK[2]. The resultant trio VCF is then post-processing with FamSeq[3] to eliminate mendelian errors.
☆11Updated 4 years ago
Alternatives and similar repositories for dv-trio
Users that are interested in dv-trio are comparing it to the libraries listed below
Sorting:
- CLI to automate Nextflow pipeline testing☆12Updated 2 weeks ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 3 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆18Updated 5 years ago
- Pan gGnome Viewer☆10Updated 5 months ago
- Analysis and figure generation code for the ABRF NGS Phase II Study on DNA-seq reproducibility☆19Updated 4 years ago
- ☆13Updated 3 years ago
- Detects human contamination in bam files☆16Updated 5 years ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆18Updated last month
- A pipeline for making SWIft Genomes in a Graph (SWIGG) using k-mers☆22Updated 6 years ago
- ☆12Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- Hidden Markov Model based Copy number caller☆20Updated 3 weeks ago
- SeqWho - A reliable and rapid FASTQ(A) file classifier☆10Updated 3 years ago
- Clinical Variant Annotation Pipeline☆10Updated 5 years ago
- Ultra-fast, high-performing structural variation (SV) detector☆23Updated 2 years ago
- Toolkit for calling and analyzing de novo STR mutations☆17Updated 2 years ago
- ☆16Updated 11 months ago
- Bedfile perturbation tool☆17Updated 3 months ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Updated last month
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 4 years ago
- Benchmarking variant calling in polyploids☆15Updated 4 years ago
- MEM mapper prototype☆13Updated 5 years ago
- A wrapper for calling small variants from human germline high-coverage single-sample Illumina data☆14Updated 6 years ago
- Unfazed by genomic variant phasing☆27Updated last year
- Split a BAM file by haplotype support☆16Updated 8 years ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆13Updated 5 years ago
- Allele-Specific Quantification of Structural Variations in Cancer Genomes☆18Updated 6 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Updated 6 years ago
- Coronavirus (SARS-Cov-2) sequencing analysis☆10Updated 4 years ago