molgenis / ngs-utils
Collection of notes and scripts related to NGS
☆14Updated 3 months ago
Alternatives and similar repositories for ngs-utils
Users that are interested in ngs-utils are comparing it to the libraries listed below
Sorting:
- CNV screening and annotation tool☆25Updated 8 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Updated 10 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Thousand Variant Callers Project Repository☆72Updated 5 years ago
- An awk-like VCF parser☆56Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆55Updated 7 years ago
- ☆68Updated 2 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated last week
- ☆39Updated last year
- Python package and routines for merging VCF files☆29Updated 4 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 8 years ago
- for detecting internal tandem duplication from genome sequence data.☆11Updated 5 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 2 years ago
- Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing☆40Updated 6 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆48Updated 6 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- an empirical Bayesian framework for mutation detection from cancer genome sequencing data☆31Updated 9 years ago
- ☆25Updated 7 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆32Updated 4 years ago