macarthur-lab / omimLinks
Repo for downloading and storing OMIM data
☆19Updated 9 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
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Updated 3 years ago
- Website to analyze conflicting assertions in ClinVar☆19Updated last year
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆32Updated last month
- ☆69Updated 3 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆33Updated 8 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 5 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Personal diploid genome creation and coordinate conversion☆30Updated 9 months ago
- Linking GWAS studies to genes through cis-regulatory datasets☆39Updated 2 years ago
- ☆29Updated 4 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆30Updated 7 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated this week
- Phenotype driven gene prioritization for HPO☆51Updated 4 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 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
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- A false-positive filter for variants called from massively parallel sequencing☆29Updated 8 years ago
- Generic human DNA variant annotation pipeline☆59Updated last year
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- PharmGKB NGS Pipeline☆19Updated 7 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Estimate damage in standard NGS library preparation. Incompatible with library preparation methods from which the imbalance is lost (such…☆54Updated 8 years ago
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago
- identifying mutational significance in cancer genomes☆62Updated 3 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