suqingdong / omimLinks
omim database
☆27Updated last year
Alternatives and similar repositories for omim
Users that are interested in omim are comparing it to the libraries listed below
Sorting:
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- Microsatellite Analysis for Normal-Tumor InStability☆75Updated 3 years ago
- ⛏ HLA predictions from NGS shotgun data☆55Updated 5 months ago
- ☆54Updated 2 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆43Updated 6 years ago
- CNV screening and annotation tool☆25Updated 9 years ago
- Helper scripts for biological data processing from Sentieon☆64Updated last month
- Tumor Mutational Burden☆63Updated 4 months ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- QDNAseq package for Bioconductor☆53Updated last year
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆51Updated last month
- VEP Plugin to annotate high-impact five prime UTR variants☆27Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated 2 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆56Updated this week
- HLA typing for Sanger Based Test☆18Updated 2 years ago
- ☆25Updated 6 years ago
- ONCOCNV - a package to detect copy number changes in Targeted Deep Sequencing and Exome-seq data☆25Updated last month
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- Tools for processing and analyzing structural variants.☆34Updated 10 years ago
- for visual evaluation of read support for structural variation☆55Updated last year
- An automatic classification tool for PVS1 interpretation of null variants☆42Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆41Updated 3 months ago
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- ☆27Updated last year
- Python package to annotate and visualize gene fusions.☆65Updated last year
- identifying mutational significance in cancer genomes☆62Updated 3 years ago
- A collection of command line tools for working with sequencing data☆52Updated 2 weeks ago