ImperialCardioGenetics / frequencyFilterLinks
Allele frequency filtering for Mendelian variant discovery
☆18Updated 9 years ago
Alternatives and similar repositories for frequencyFilter
Users that are interested in frequencyFilter are comparing it to the libraries listed below
Sorting:
- Allele frequency filter app☆14Updated 3 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated last week
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- ☆13Updated 8 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- Interactive table from gemini output☆10Updated 6 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 5 years ago
- The original version of MGA has been archived - please see https://github.com/crukci-bioinformatics/mga2 instead.☆25Updated 4 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 6 years ago
- BigWig manpulation tools using libBigWig and htslib☆30Updated last year
- ☆11Updated 2 years ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 6 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- v2.x of the microassembly based somatic variant caller☆23Updated 5 months ago
- Allele-Specific Quantification of Structural Variations in Cancer Genomes☆18Updated 6 years ago
- Reducing reference bias using multiple population reference genomes☆34Updated last year
- ☆11Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 9 months ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆12Updated 6 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Updated 4 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated last year
- gnomAD browser pre-ASHG 2018☆33Updated 5 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Updated 6 years ago
- ☆23Updated last month
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago