bio-ontology-research-group / phenomenet-vpLinks
A phenotype-based tool for variant prioritization in WES and WGS data
☆38Updated 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
Sorting:
- Phenotype driven gene prioritization for HPO☆46Updated 3 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last week
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆17Updated last year
- ☆29Updated 4 years ago
- ☆23Updated 6 years ago
- ☆25Updated 6 months ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆82Updated last month
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- Repo for downloading and storing OMIM data☆19Updated 8 years ago
- for visual evaluation of read support for structural variation☆54Updated last year
- Generic human DNA variant annotation pipeline☆58Updated last year
- Burden testing against public controls☆50Updated last year
- Clinical interpretation of somatic mutations in cancer☆46Updated 4 months ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆44Updated 6 months ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆56Updated 7 years ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆35Updated 11 months ago
- ☆12Updated 11 months ago
- ☆39Updated 9 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- ☆32Updated 5 months ago
- Linking GWAS studies to genes through cis-regulatory datasets☆39Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- Tool suite for HGVS variant descriptions☆41Updated last week
- BIC@MSKCC Variants Pipeline☆24Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year