CNV screening and annotation tool
☆25Oct 31, 2016Updated 9 years ago
Alternatives and similar repositories for cnvScan
Users that are interested in cnvScan are comparing it to the libraries listed below
Sorting:
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 3 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆72Jun 26, 2023Updated 2 years ago
- An automatic classification tool for PVS1 interpretation of null variants☆44Mar 4, 2024Updated 2 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆12Sep 3, 2019Updated 6 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 8 months ago
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 5 years ago
- Clinical machine-learning based interpreter of germline mutations.☆12Mar 13, 2025Updated 11 months ago
- FastSMC is a method to quickly and accurately estimate pairwise identical-by-descent (IBD) regions in the genome. FastSMC estimates the a…☆14Sep 2, 2021Updated 4 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Dockerised and simplified version of SeqWare-CGP-SomaticCore☆14Mar 5, 2021Updated 5 years ago
- SANEFALCON (Single reAds Nucleosome-basEd FetAL fraCtiON): Calculating the fetal fraction for noninvasive prenatal testing based on genom…☆14Jun 5, 2020Updated 5 years ago
- Universal RObust Peak Annotator☆16Dec 19, 2023Updated 2 years ago
- Copy Number Variations (CNV) Simulator☆11Jul 30, 2018Updated 7 years ago
- Prioritize structural variants based on CADD scores☆29May 7, 2020Updated 5 years ago
- Seeking information like heteroplasmy, structure variants, etc. on Mitochondrial genome from next generation sequencing☆41Dec 11, 2018Updated 7 years ago
- A toolkit to design standard primers, multiplexed primers, and primers around SV's☆13Oct 29, 2022Updated 3 years ago
- Helpers for working with ChromHMM (http://compbio.mit.edu/ChromHMM/)☆17Feb 26, 2018Updated 8 years ago
- NGS-PrimerPlex is a high-throughput tool for mupltiplex primer design☆69May 26, 2025Updated 9 months ago
- Variant quality checking scripts.☆11Feb 4, 2016Updated 10 years ago
- Benchmarking gene and variant prioritization algorithms for GWAS data☆15Feb 27, 2020Updated 6 years ago
- Deep Variant as a Nextflow pipeline☆30Jul 24, 2020Updated 5 years ago
- ☆13Dec 7, 2021Updated 4 years ago
- ☆17Mar 6, 2024Updated last year
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆40Aug 17, 2021Updated 4 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆47Apr 24, 2024Updated last year
- ☆20Mar 31, 2021Updated 4 years ago
- HadoopCNV is a MapReduce-based copy number variation caller for genome sequencing data☆20Apr 25, 2017Updated 8 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated 2 months ago
- ☆18Mar 14, 2022Updated 3 years ago
- HemTools: a collection of NGS pipelines and bioinformatic analyses☆74Updated this week
- Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls☆45Jan 26, 2022Updated 4 years ago
- An open source genomics data analysis package based on deep learning for auto tuning network structure and building models.☆21Oct 3, 2023Updated 2 years ago
- ☆18Sep 6, 2022Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- Expanded STR algorithm for Illumina sequencing data☆23Sep 11, 2022Updated 3 years ago
- This GCI/VCI 1.0 platform has now been retired, and replaced with our new 2.0 platform:☆25Sep 16, 2022Updated 3 years ago
- ☆18May 19, 2022Updated 3 years ago