hms-dbmi / GenoPheno-CatalogShinyView external linksLinks
Shiny app for geno-pheno catalog
☆11Nov 4, 2022Updated 3 years ago
Alternatives and similar repositories for GenoPheno-CatalogShiny
Users that are interested in GenoPheno-CatalogShiny are comparing it to the libraries listed below
Sorting:
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- ☆10Oct 18, 2021Updated 4 years ago
- Web application for clinical pharmacogenomic interpretation☆10Mar 3, 2017Updated 8 years ago
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Jun 25, 2019Updated 6 years ago
- Enabling differential allele-specific analysis☆11Dec 28, 2024Updated last year
- Pipeline for generating RNAseq-based cancer patient reports☆11Feb 4, 2026Updated last week
- ☆10Mar 25, 2025Updated 10 months ago
- Functions to extract information from Oxford Nanopore sequencing data and alignments☆11Dec 4, 2025Updated 2 months ago
- ☆13Apr 18, 2022Updated 3 years ago
- amplicon/smMIP mapping and analysis pipeline☆11Dec 8, 2022Updated 3 years ago
- Preprocessing sequencing data for allele-specific analysis☆12Mar 11, 2025Updated 11 months ago
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆13Oct 7, 2025Updated 4 months ago
- A CNN - based pipeline for calling somatic SNP and INDEL variants without a matched normal☆11Sep 7, 2022Updated 3 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 9 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- SeqOthello supports fast coverage query and containment query.☆12May 8, 2019Updated 6 years ago
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- Tutorial on survival modeling with omics data☆11Mar 12, 2025Updated 11 months ago
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- Realtime base modification frequency tool☆13Sep 16, 2025Updated 5 months ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- An R package for Standardized Summary, Annotation, Comparison, and Visualization of CNV, CNVR and ROH☆15Oct 17, 2021Updated 4 years ago
- ☆15Oct 10, 2023Updated 2 years ago
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- slncky is a tool for lncRNA discovery from RNA-Seq data. slncky filters a high-quality set of noncoding transcripts, discovers lncRNA or…☆13Apr 13, 2021Updated 4 years ago
- Tandem repeat genotyping from long reads☆20Updated this week
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Aug 25, 2020Updated 5 years ago
- ☆33Nov 6, 2022Updated 3 years ago
- DNN-based small variant caller☆12May 2, 2022Updated 3 years ago
- Example R scripts to run burden and association analysis on array CNV data☆14Nov 9, 2016Updated 9 years ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆15Jan 27, 2026Updated 2 weeks ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Aug 17, 2025Updated 5 months ago
- ☆39Jul 3, 2025Updated 7 months ago
- drunk on perbase pileups and lua expressions☆19Nov 15, 2025Updated 3 months ago
- A k-mer frequency statistics software☆15Nov 19, 2021Updated 4 years ago
- WES HLA Typing based on multiple alternative tools☆18Mar 8, 2021Updated 4 years ago