jfoox / abrfngs2
Analysis and figure generation code for the ABRF NGS Phase II Study on DNA-seq reproducibility
☆19Updated 3 years ago
Alternatives and similar repositories for abrfngs2
Users that are interested in abrfngs2 are comparing it to the libraries listed below
Sorting:
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Updated last month
- Toolkit for calling and analyzing de novo STR mutations☆13Updated last year
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆23Updated last year
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 3 years ago
- ☆16Updated 3 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Unfazed by genomic variant phasing☆26Updated 11 months ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- 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
- This is the Haplotypo repository☆20Updated 11 months ago
- Structural variation and indel detection using rolling local string graph assembly☆9Updated 8 years ago
- Expedite large-scale identification of CNVs within predefined genomic regions. Online app available for those with GP2 Tier 2 Access.☆10Updated 5 months ago
- Runs a combination of tools to generate structural variant calls on short-read whole-genome sequencing data☆21Updated 3 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last month
- ☆11Updated 2 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 5 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- Phase reads, assemble haplotypes and detect SVs☆19Updated 4 years ago
- Code associated with the manuscript "A complete reference genome improves analysis of human genetic variation".☆17Updated 2 years ago
- Benchmarking variant calling in polyploids☆13Updated 3 years ago
- Benchmark structural variant calls against a reference set☆17Updated 6 months ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆12Updated 4 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- Pan gGnome Viewer☆10Updated last year
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆13Updated this week
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Hidden Markov Model based Copy number caller☆20Updated 6 months ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆14Updated 2 years ago