WGLab / Phen2GeneLinks
Phenotype driven gene prioritization for HPO
☆49Updated 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☆67Updated 2 years ago
- Burden testing against public controls☆50Updated last year
- ☆53Updated 2 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Clinical interpretation of somatic mutations in cancer☆48Updated 7 months ago
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆43Updated 5 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated last month
- ☆46Updated 5 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
- ☆69Updated 3 years ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated 11 months ago
- Script to convert GTC/BPM files to VCF☆47Updated last year
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Updated last year
- identifying mutational significance in cancer genomes☆61Updated 2 years ago
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated 3 weeks ago
- ☆16Updated 4 years ago
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 3 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆55Updated 4 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆90Updated 3 weeks ago
- Benchmarking of CNV calling tools☆18Updated 6 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- CN-Learn☆30Updated 5 years ago
- Characterization of Germline variants☆98Updated 3 years ago