WGLab / Phen2GeneLinks
Phenotype driven gene prioritization for HPO
☆51Updated 4 years ago
Alternatives and similar repositories for Phen2Gene
Users that are interested in Phen2Gene are comparing it to the libraries listed below
Sorting:
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- ☆54Updated 3 years ago
- Burden testing against public controls☆50Updated last year
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆45Updated 6 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- TIDDIT - structural variant calling☆78Updated last month
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Updated 3 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated last month
- ☆46Updated 6 years ago
- ☆69Updated 3 years ago
- Tumor Mutational Burden☆63Updated 5 months ago
- Concordance and contamination estimator for tumor–normal pairs☆59Updated last year
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- Script to convert GTC/BPM files to VCF☆48Updated 3 months ago
- ONCOCNV - a package to detect copy number changes in Targeted Deep Sequencing and Exome-seq data☆25Updated 2 months ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆85Updated 2 weeks ago
- CNV screening and annotation tool☆25Updated 9 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated 2 months ago
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago
- QDNAseq package for Bioconductor☆54Updated last year
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆47Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated 2 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- A suite of tools for detecting expansions of short tandem repeats☆83Updated 2 years ago
- ☆43Updated last year
- Data and information about the Polaris study☆55Updated 6 years ago
- identifying mutational significance in cancer genomes☆62Updated 3 years ago