Example client programs for Saphetor's VarSome annotation API
☆37Sep 29, 2025Updated 5 months ago
Alternatives and similar repositories for varsome-api-client-python
Users that are interested in varsome-api-client-python are comparing it to the libraries listed below
Sorting:
- 用每个窗口的read数作为特征、胎儿浓度作为标签,训练神经网络模型;训练完成的神经网络模型可用于NIPT胎儿浓度的预测☆11Jun 10, 2022Updated 3 years ago
- An iobio app for examining gene variants☆20Sep 10, 2018Updated 7 years ago
- a web application to search and navigate the Human Phenotype Ontology (HPO)☆14Updated this week
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Dec 3, 2019Updated 6 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
- COSAP: Comparative Sequencing Analysis Platform☆19Dec 10, 2025Updated 2 months ago
- gnomAD browser pre-ASHG 2018☆33Nov 2, 2020Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- ☆13Mar 31, 2018Updated 7 years ago
- 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
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- Materials for Principles of Data Science BIOS 611☆20Nov 19, 2019Updated 6 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
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆46Nov 5, 2019Updated 6 years ago
- SARS-CoV-2 analysis pipeline for multiplex-PCR MPS(Massive Parrallel Sequencing) data☆20Jan 24, 2022Updated 4 years ago
- Samwell: a python package for using genomic files... well☆20Jun 28, 2022Updated 3 years ago
- PharmGKB NGS Pipeline☆19Oct 2, 2018Updated 7 years ago
- VariantGrid public repo☆24Updated this week
- MyVariant.info: A BioThings API for human variant annotations☆98Sep 10, 2025Updated 5 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Sep 16, 2025Updated 5 months ago
- High-Performance NoSQL database and RESTful web services to access to most relevant biological data. Found a bug or have an idea for a ne…☆93Feb 25, 2026Updated last week
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Feb 3, 2022Updated 4 years ago
- Phenotype driven gene prioritization for HPO☆52Jul 26, 2021Updated 4 years ago
- A Tool to Annotate and Prioritize Exome Variants☆241Updated this week
- LOVD3 development repository☆25Oct 13, 2025Updated 4 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆107Dec 14, 2020Updated 5 years ago
- A combined deep learning tool for automated recognition of human phenotype ontology☆27Nov 29, 2022Updated 3 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 3 years ago
- Tools for next-generation sequencing analysis☆89Jun 25, 2019Updated 6 years ago
- Public repository for VariantValidator project☆79Feb 16, 2026Updated 2 weeks ago
- JHU EN.600.649: Computational Genomics: Applied Comparative Genomics☆59Mar 8, 2018Updated 7 years ago
- R package for RNA-seq workflows at HCI☆15Nov 20, 2025Updated 3 months ago
- A high throughput automated drug discovery pipeline.☆29Mar 16, 2018Updated 7 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆35Oct 21, 2025Updated 4 months ago
- ☆14Mar 22, 2018Updated 7 years ago
- ☆10Dec 29, 2021Updated 4 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆39Dec 15, 2025Updated 2 months ago
- a Medical Genetics Sequence Analysis Pipeline☆87Updated this week
- Complex structural variant visualization for HiFi sequencing data☆47Oct 24, 2025Updated 4 months ago