mutalyzer / description-extractor
HGVS variant description extractor
☆11Updated 4 years ago
Related projects ⓘ
Alternatives and complementary repositories for description-extractor
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆33Updated 8 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 8 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- robust matching of small variant datasets using flexible scoring schemes☆10Updated 4 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- What's The Function of these genes?☆23Updated 7 years ago
- The OpEx (Optimised Exome) pipeline☆9Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆29Updated last year
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 8 years ago
- BigWig manpulation tools using libBigWig and htslib☆28Updated 3 months ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Updated 5 months ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 3 months ago
- Manuscript describing ChronQC is now available online in Bioinformatics☆17Updated 5 years ago
- Novel Adjacency Identification with Barcoded Reads☆13Updated 2 years ago
- Integrated Variant Caller☆17Updated 6 years ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆10Updated 3 years ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 5 years ago
- This repository contains information about ongoing analysis performed by GIAB☆13Updated 5 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆15Updated 6 months ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- Hemang Parikh☆11Updated 8 years ago
- Variant caller GUI + genetic disease analysis☆22Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- Website to analyze conflicting assertions in ClinVar☆16Updated 9 months ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- ☆27Updated 7 years ago
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Updated last year
- a pileup library that embraces the huge☆42Updated 4 years ago