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
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 3 years ago
- Toolkit for calling and analyzing de novo STR mutations☆14Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Updated 3 weeks ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Updated last year
- Ultra-fast, high-performing structural variation (SV) detector☆23Updated 2 years ago
- Rapid and accurate ancestry inference using SNVs.☆26Updated last month
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆15Updated 2 weeks ago
- Code associated with the manuscript "A complete reference genome improves analysis of human genetic variation".☆17Updated 2 years ago
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Updated 6 years ago
- ☆22Updated 2 months ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆12Updated 5 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 5 years ago
- A framework to annotate SVs with previous known SVs (vcf file) and or with genomic features (gff and or bed files)☆13Updated 7 years ago
- Benchmarking variant calling in polyploids☆15Updated 3 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Updated 3 years ago
- This is the Haplotypo repository☆20Updated last year
- Split a BAM file by haplotype support☆16Updated 7 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- ☆14Updated 2 years ago
- Ultra-efficient mapping-free structural variation genotyper☆19Updated 4 years ago
- ☆16Updated 8 months ago
- Reducing reference bias using multiple population reference genomes☆33Updated last year
- ☆20Updated last year
- Hidden Markov Model based Copy number caller☆20Updated 11 months ago
- RNAseq analysis with Hisat2, stringtie, and ballgown☆17Updated 6 years ago
- Bioinformatics tools for dealing with Multiple Alignment Format (MAF) files.☆11Updated 3 months ago
- R package specialized in HLA typing clustering and visualization based on specific similarity metrics☆14Updated 5 years ago