ZuchnerLab / MaverickLinks
A Mendelian approach to variant effect prediction built in keras
☆19Updated 10 months ago
Alternatives and similar repositories for Maverick
Users that are interested in Maverick are comparing it to the libraries listed below
Sorting:
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 3 months ago
- ☆12Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆37Updated last year
- A python tool box for fast and accurate quality control, conversion and alignment of nanopore sequencing data☆20Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated 3 weeks ago
- An insertion caller for Illumina paired-end WGS data.☆23Updated last week
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆23Updated 2 years ago
- WDL workflows for variant calling and assembly using ONT☆35Updated this week
- POSTRE: Prediction Of STRuctural variant Effects☆27Updated 6 months ago
- A variant caller for the GBA gene using WGS data☆22Updated last year
- ☆44Updated 11 months ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Updated last year
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Variant annotation and merging pipeline☆39Updated last month
- ☆48Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆33Updated last month
- ☆32Updated 2 years ago
- A simple script to create a customizable html file from an AnnotSV output.☆19Updated last year
- Detection and genotyping of structural variants☆18Updated 4 months ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- A fork of the project Excavator2 from sourceforge.☆10Updated 8 years ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆22Updated 5 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 3 years ago
- ☆36Updated 2 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- Working space for the GIAB TR benchmarking project☆21Updated 10 months ago
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆63Updated 3 weeks ago