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:
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- ☆29Updated 4 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated last year
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- ☆15Updated 4 years ago
- MuPeXI: the mutant peptide extractor and informer, a tool for predicting neo-epitopes from tumor sequencing data.☆50Updated 5 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last month
- Linking GWAS studies to genes through cis-regulatory datasets☆39Updated 2 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- ☆18Updated 5 years ago
- 3D hotspot mutation proximity analysis tool☆47Updated 2 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- Fine-mapping pipeline for Open Targets Genetics☆26Updated 2 years ago
- Personal diploid genome creation and coordinate conversion☆27Updated 2 months ago
- CWL implementation of CloudNeo: A cloud pipeline for identifying patient-specific tumor neoantigens☆19Updated 6 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
- Rna-seq pipeline, From FASTQ to differential expression analysis...☆20Updated 8 years ago
- ChIP-seq DC and QC Pipeline☆34Updated 4 years ago
- ☆23Updated 6 years ago
- An interactive learning resource for next-generation sequencing (NGS) techniques☆29Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- ☆68Updated 2 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- ☆20Updated 8 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago