andrewjesaitis / variant-annotation-comparison-2017
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
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- full taxonomer cython repository☆22Updated 5 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- Somatic point mutation caller☆17Updated 8 years ago
- a Shiny/R application to view and annotate copy number variations☆27Updated 2 years ago
- Prioritize structural variants based on CADD scores☆29Updated 4 years ago
- 🍶 Genome assembly with short sequence reads☆25Updated last year
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- A software package for detection of copy number alterations from tumor samples☆12Updated 9 years ago
- an open-source pipeline for Affymetrix Axiom genotyping workflow on livestock species☆13Updated 8 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Analysis from kallisto paper☆32Updated 9 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- Benchmark pipeline for Structural Variation analyses, funded by the ALLBio.☆24Updated 10 years ago
- A program for fast and accurate genome-guided transcripts reconstruction and quantification from RNA-seq (Supporting Pacbio single-end)☆23Updated 4 years ago
- Penetrance estimates; frequency and distribution of secondary findings for the ACMG-59 gene panel☆1Updated 7 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Using reference-free compressed data structures to analyse thousands of human genomes (1000 Genomes ReadServer)☆14Updated 7 years ago
- MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers☆21Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 10 months ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 8 months ago
- Method for detecting STR expansions from short-read sequencing data☆62Updated 3 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Split a BAM file by haplotype support☆16Updated 7 years ago
- A transposition caller.☆10Updated last year