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 6 years ago
Alternatives and similar repositories for seave
Users that are interested in seave are comparing it to the libraries listed below
Sorting:
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Allele frequency filter app☆14Updated 3 years ago
- myVCF: a web-based platform for target and exome mutations data management☆20Updated 4 years ago
- robust matching of small variant datasets using flexible scoring schemes☆10Updated 5 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 6 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 4 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Manuscript describing ChronQC is now available online in Bioinformatics☆18Updated 6 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- This repository contains information about ongoing analysis performed by GIAB☆14Updated 5 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Call regions of homozygosity and make tentative UPD calls☆11Updated 7 months ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- Allele frequency filtering for Mendelian variant discovery☆17Updated 8 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers☆11Updated 8 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 11 months ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 years ago
- Novel Adjacency Identification with Barcoded Reads☆13Updated 3 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 5 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Toil workflows for common genomic pipelines☆33Updated 5 years ago