Clinical interpretation of somatic mutations in cancer
☆50Feb 20, 2025Updated last year
Alternatives and similar repositories for CancerVar
Users that are interested in CancerVar are comparing it to the libraries listed below
Sorting:
- python module for querying the vicc knowledgebase integration datastore☆11Jul 6, 2023Updated 2 years ago
- for visual evaluation of read support for structural variation☆56Jun 4, 2024Updated last year
- Microsatellite Instability Classification using Multiple Instance Learning☆28Mar 3, 2025Updated 11 months ago
- Calculates the Variant Allele Fraction of variants in VCF files☆19Nov 28, 2024Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Jan 4, 2024Updated 2 years ago
- Platform for Oncogenomic Reporting and Interpretation (PORI)☆35Jan 10, 2026Updated last month
- Simplify snpEff annotations for interesting cases☆22Feb 18, 2019Updated 7 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- ☆14Oct 9, 2025Updated 4 months ago
- ☆11Oct 19, 2021Updated 4 years ago
- ☆11May 26, 2023Updated 2 years ago
- Tumor Mutational Burden☆65Feb 17, 2026Updated last week
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Sep 28, 2022Updated 3 years ago
- ☆13Jun 7, 2024Updated last year
- exploratory scripts for clustering ccs amplicon data☆11Feb 2, 2021Updated 5 years ago
- ⛏ HLA predictions from NGS shotgun data☆55Jun 6, 2025Updated 8 months ago
- pythonic wrapper for htslib☆24Aug 8, 2017Updated 8 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- ☆29Jul 10, 2019Updated 6 years ago
- SigProfilerTopography allows evaluating the effect of chromatin organization, histone modifications, transcription factor binding, DNA re…☆24Jan 3, 2026Updated last month
- Singularity port of HLA typing based on an input exome BAM file and is currently infers infers alleles for the three major MHC class I (…☆14Jan 15, 2017Updated 9 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Dec 24, 2024Updated last year
- Copy Number Variations (CNV) Simulator☆11Jul 30, 2018Updated 7 years ago
- Exome Copy Number Variation Polisher via Deep Learning☆18Jun 1, 2020Updated 5 years ago
- cfSNV: An R tool of sensitively detecting tumor mutations from cell-free DNA in blood☆14Apr 29, 2023Updated 2 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Jun 12, 2022Updated 3 years ago
- Characterization of Germline variants☆100Mar 15, 2022Updated 3 years ago
- A toolkit to design standard primers, multiplexed primers, and primers around SV's☆13Oct 29, 2022Updated 3 years ago
- ☆36Mar 16, 2021Updated 4 years ago
- ☆26Dec 4, 2019Updated 6 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆115Apr 2, 2025Updated 10 months ago
- Toolkit for calling and analyzing de novo STR mutations☆17Dec 17, 2023Updated 2 years ago
- ☆18Jun 23, 2021Updated 4 years ago
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆18Jan 31, 2024Updated 2 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Sep 16, 2025Updated 5 months ago
- Plot CNV data with a genome viewer in R☆15Apr 5, 2017Updated 8 years ago
- CNApp represents the first web tool to perform a comprehensive and integrative analysis of copy number alterations (CNAs) in a user-frien…☆20Jan 17, 2020Updated 6 years ago
- ☆69Jun 21, 2022Updated 3 years ago