stormliucong / doc2hpoLinks
☆32Updated 9 months ago
Alternatives and similar repositories for doc2hpo
Users that are interested in doc2hpo 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☆38Updated 2 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated 4 months ago
- Phenotype driven gene prioritization for HPO☆50Updated 4 years ago
- HGVS variant nomenclature checker☆98Updated 2 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆128Updated 5 years ago
- Clinical interpretation of somatic mutations in cancer☆49Updated 8 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated last week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 2 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆67Updated 2 years ago
- A Tool to Annotate and Prioritize Exome Variants☆229Updated last month
- ☆69Updated 3 years ago
- FLT3-ITD script based on in-silico extension and clustering☆14Updated 4 years ago
- Tool suite for HGVS variant descriptions☆47Updated last week
- A modular annotation tool for genomic variants☆129Updated last week
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆35Updated 8 years ago
- a Medical Genetics Sequence Analysis Pipeline☆84Updated last week
- Relevant papers for CNV and SV approaches☆94Updated 11 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆26Updated 5 years ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆77Updated 5 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆86Updated 4 months ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Documentation and description of AWS iGenomes S3 resource.☆117Updated 10 months ago
- simple comparison of snakemake, nextflow and cromwell/wdl☆50Updated 5 years ago
- ☆182Updated 2 years ago
- ☆57Updated 5 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆56Updated 5 years ago
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago