jfoox / abrfngs2Links
Analysis and figure generation code for the ABRF NGS Phase II Study on DNA-seq reproducibility
☆19Updated 4 years ago
Alternatives and similar repositories for abrfngs2
Users that are interested in abrfngs2 are comparing it to the libraries listed below
Sorting:
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Updated 4 years ago
- Ultra-fast, high-performing structural variation (SV) detector☆23Updated 2 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- ☆23Updated 5 months ago
- ☆23Updated last month
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Updated 2 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 3 years ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆13Updated 5 years ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Updated last month
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆18Updated last month
- Population-scale detection of non-reference sequence variants using colored de Bruijn Graphs☆26Updated last year
- Unfazed by genomic variant phasing☆27Updated last year
- Reducing reference bias using multiple population reference genomes☆34Updated last year
- Code associated with the manuscript "A complete reference genome improves analysis of human genetic variation".☆17Updated 2 years ago
- Split a BAM file by haplotype support☆16Updated 8 years ago
- Detects human contamination in bam files☆16Updated 5 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆18Updated 5 years ago
- FastRemap, a C++ tool for quickly remapping reads between genome assemblies based on the commonly used CrossMap tool. Link to paper: http…☆26Updated 3 years ago
- Ultra-efficient mapping-free structural variation genotyper☆20Updated 4 years ago
- Single-pass probabilistic duplicate marking of alignments with a Bloom filter.☆23Updated 2 years ago
- This is the Haplotypo repository☆22Updated last year
- Hidden Markov Model based Copy number caller☆20Updated 3 weeks ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated 2 weeks ago
- Genotyping of segregating mobile elements insertions☆19Updated 4 years ago
- ☆15Updated 2 years ago
- Benchmarking variant calling in polyploids☆15Updated 4 years ago
- Toolkit for calling and analyzing de novo STR mutations☆17Updated 2 years ago
- A wrapper for calling small variants from human germline high-coverage single-sample Illumina data☆14Updated 6 years ago
- Bioinformatics tools for dealing with Multiple Alignment Format (MAF) files.☆11Updated 5 months ago
- toolkit to process gtf files☆17Updated 4 years ago