macarthur-lab / omimLinks
Repo for downloading and storing OMIM data
☆19Updated 8 years ago
Alternatives and similar repositories for omim
Users that are interested in omim are comparing it to the libraries listed below
Sorting:
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated 2 months ago
- Fine-mapping pipeline for Open Targets Genetics☆26Updated 2 years ago
- PharmGKB NGS Pipeline☆19Updated 6 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆85Updated 3 months ago
- 3D hotspot mutation proximity analysis tool☆48Updated 2 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆33Updated 3 years ago
- For biological deep sequencing data. Decompose a UCSC knownGenes/Ensembl GTF file into transcript regions (i.e. exons, introns, UTRs and…☆35Updated 2 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- ☆25Updated 7 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- MuPeXI: the mutant peptide extractor and informer, a tool for predicting neo-epitopes from tumor sequencing data.☆51Updated 5 years ago
- Classifies genes as an oncogene, tumor suppressor gene, or as a non-driver gene by using Random Forests☆49Updated last year
- ☆69Updated 3 years ago
- ☆29Updated 4 years ago
- Clinical interpretation of somatic mutations in cancer☆47Updated 6 months ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆35Updated 8 years ago
- Personal diploid genome creation and coordinate conversion☆30Updated 4 months ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Python package to annotate and visualize gene fusions.☆64Updated 11 months ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Linking GWAS studies to genes through cis-regulatory datasets☆39Updated 2 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago