7ravis / hgvs-regexp
WIP : regular expressions for identifying and extracting values from HGVS nomenclature
☆12Updated 6 years ago
Alternatives and similar repositories for hgvs-regexp:
Users that are interested in hgvs-regexp are comparing it to the libraries listed below
- Building the constrained coding regions (CCR) model☆16Updated 6 years ago
- R function to plot high quality, elegant heatmap using 'ggplot2' graphics . Some of the important features of this package are, colorin…☆11Updated 8 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 6 months ago
- Data management of large-scale whole-genome sequence variant calls (Development version only)☆45Updated this week
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 2 years ago
- R package to quickly obtain count vectors from indexed bam files☆15Updated 3 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Fast sequencing data quality metrics☆18Updated this week
- Gene lists related to cancer immunotherapy☆13Updated 5 months ago
- Data visualization and analysis framework focused on phenotype-molecular data integration at cohort level.☆26Updated this week
- fast webservices based query tool for large sets of genomic features☆25Updated 2 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Updated 5 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Comprehensive Human Expressed SequenceS☆16Updated 6 months ago
- Lollipop-diagram to interactively visualize genetic mutations☆31Updated 5 months ago
- RNA-seq for Mendelian disease diagnostics: A hands-on tutorial through bioinformatic tools and workflows☆17Updated 2 years ago
- FRAMA: From RNA-seq data to annotated mRNA assemblies☆12Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- myVCF: a web-based platform for target and exome mutations data management☆20Updated 3 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆33Updated 2 months ago
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated 9 months ago
- Calculate and plot distributions of genomic ranges☆26Updated 9 months ago
- R Interface to the NCBI SRA metadata☆23Updated 6 years ago
- v2.x of the microassembly based somatic variant caller☆14Updated this week
- Genomic data interpretation and visualization Workshop☆19Updated last year
- Clinical Variant Annotation Pipeline☆10Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago