bio-ontology-research-group / phenomenet-vp
A phenotype-based tool for variant prioritization in WES and WGS data
☆37Updated 2 years ago
Alternatives and similar repositories for phenomenet-vp:
Users that are interested in phenomenet-vp are comparing it to the libraries listed below
- Phenotype driven gene prioritization for HPO☆45Updated 3 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆25Updated 3 weeks ago
- Website to analyze conflicting assertions in ClinVar☆17Updated last year
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- ☆30Updated 4 years ago
- Clinical interpretation of somatic mutations in cancer☆44Updated this week
- Repo for downloading and storing OMIM data☆18Updated 8 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated 9 months ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 6 years ago
- Generic human DNA variant annotation pipeline☆57Updated last year
- ☆31Updated last month
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆33Updated 7 years ago
- ☆23Updated 2 months ago
- ☆23Updated 6 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆76Updated 2 months ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆43Updated 2 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated this week
- Python library for extracting HPO encoded phenotypes from text☆28Updated 9 months ago
- ☆68Updated 2 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated 11 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- ☆21Updated this week
- Burden testing against public controls☆50Updated 11 months ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 2 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Tool suite for HGVS variant descriptions☆36Updated this week
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago