KCCG / seaveLinks
Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. …
☆16Updated 7 years ago
Alternatives and similar repositories for seave
Users that are interested in seave are comparing it to the libraries listed below
Sorting:
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Allele frequency filter app☆14Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated last year
- Allele frequency filtering for Mendelian variant discovery☆18Updated 9 years ago
- CADD-SV – a framework to score the effect of structural variants☆17Updated last week
- VAPr: A Python package for NoSQL variant data storage, annotation and prioritization☆37Updated 4 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Updated 4 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 9 months ago
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Portable WDL workflows for IDseq production pipelines☆32Updated 3 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated last week
- Genomic VCF to tab-separated values☆48Updated 2 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11Updated 6 months ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- myVCF: a web-based platform for target and exome mutations data management☆20Updated 4 years ago
- Exome/Capture/RNASeq Pipeline Implementation using snakemake☆19Updated 6 years ago
- robust matching of small variant datasets using flexible scoring schemes☆11Updated 5 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- This repository contains information about ongoing analysis performed by GIAB☆14Updated 6 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
- Samwell: a python package for using genomic files... well☆20Updated 3 years ago
- Kourami: Graph-guided assembly for HLA alleles☆38Updated 6 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 6 years ago