andrewjesaitis / variant-annotation-comparison-2017Links
Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers
☆11Updated 8 years ago
Alternatives and similar repositories for variant-annotation-comparison-2017
Users that are interested in variant-annotation-comparison-2017 are comparing it to the libraries listed below
Sorting:
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 6 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 8 years ago
- picking up low allelic-fraction, somatic variants from tumor samples☆14Updated 8 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- myVCF: a web-based platform for target and exome mutations data management☆20Updated 4 years ago
- A software package for detection of copy number alterations from tumor samples☆12Updated 10 years ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Somatic point mutation caller☆17Updated 9 years ago
- Analysis from kallisto paper☆32Updated 9 years ago
- create a gemini-compatible database from a VCF☆55Updated 5 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆12Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- Tools for bam file processing☆55Updated 10 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- full taxonomer cython repository☆22Updated 6 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Updated 6 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- TREDPARSE: HLI Short Tandem Repeat (STR) caller☆25Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 2 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆22Updated 3 years ago