a-xavier / tapes
TAPES : a Tool for Assessment and Prioritisation in Exome Studies
☆25Updated 5 months ago
Alternatives and similar repositories for tapes:
Users that are interested in tapes are comparing it to the libraries listed below
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated last year
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆30Updated last year
- ☆52Updated 2 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- ☆21Updated 11 months ago
- ☆23Updated 2 months ago
- R package for inferring copy number from read depth☆32Updated 2 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆27Updated last year
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- CNV screening and annotation tool☆24Updated 8 years ago
- Burden testing against public controls☆50Updated 11 months ago
- A variant caller for the GBA gene using WGS data☆21Updated 6 months ago
- VEP Plugin to annotate high-impact five prime UTR variants☆27Updated 6 months ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆41Updated this week
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- Assign gene names to regions in a BED file☆23Updated last year
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Joint calling of gVCF, following GATK4 Best Practices☆12Updated 5 years ago
- Benchmarking of CNV calling tools☆18Updated 5 years ago
- processing illumina SNP arrays☆19Updated 8 years ago
- CN-Learn☆29Updated 5 years ago
- ☆16Updated 3 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated this week
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 7 months ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆27Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 4 years ago
- ⛏ HLA predictions from NGS shotgun data☆52Updated this week