phenotype-based prioritization of candidate genes for human diseases
☆65Jan 25, 2023Updated 3 years ago
Alternatives and similar repositories for phenolyzer
Users that are interested in phenolyzer are comparing it to the libraries listed below
Sorting:
- Phenotype driven gene prioritization for HPO☆52Jul 26, 2021Updated 4 years ago
- Extracting mutational signatures via LASSO. The manuscript of the method is published on PLOS Computational Biology and available at: htt…☆11Oct 15, 2025Updated 4 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- ☆14Dec 13, 2023Updated 2 years ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Jul 25, 2023Updated 2 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- A program to detect denovo-variants using next-generation sequencing data.☆55Mar 30, 2020Updated 5 years ago
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 8 years ago
- Plot CNV data with a genome viewer in R☆15Apr 5, 2017Updated 8 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- 180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering,…☆18Feb 19, 2026Updated last week
- HGVS variant name parsing and generation☆176Jun 14, 2023Updated 2 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Feb 3, 2022Updated 4 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆72Jan 8, 2018Updated 8 years ago
- A Mendelian approach to variant effect prediction built in keras☆20Nov 3, 2025Updated 3 months ago
- Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature…☆289Feb 10, 2026Updated 2 weeks ago
- Tools for processing and analyzing structural variants.☆34Sep 8, 2015Updated 10 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆398Aug 30, 2025Updated 6 months ago
- CAVA (Clinical Annotation of VAriants)☆14Sep 28, 2018Updated 7 years ago
- Mutation Spectra Analysis☆10Mar 15, 2018Updated 7 years ago
- A needle plot for mutation data☆27Aug 31, 2017Updated 8 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆25Sep 30, 2025Updated 5 months ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated 2 months ago
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆175Aug 22, 2024Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆86Jan 5, 2026Updated last month
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- Client side iobio library for building and executing iobio commands☆10Dec 31, 2018Updated 7 years ago
- probability of mendelian error in trios.☆11Jan 27, 2016Updated 10 years ago
- SmuDGE: Semantic Disease Gene Embeddings☆12Jul 11, 2018Updated 7 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆64Updated this week
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆19Oct 10, 2022Updated 3 years ago
- Multiplex Primer Design☆22Oct 30, 2020Updated 5 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 years ago
- Convert a VCF into a MAF, where each variant is annotated to only one of all possible gene isoforms☆411Feb 20, 2026Updated last week
- Utilities to create and analyze gVCF files☆38Mar 21, 2017Updated 8 years ago