Cnngeno
Cnngeno predicts genotypes of structural variations from next-generation sequencing data using convolutional neural network–based deep learning models.
Key Features:
- CNN-Based Genotype Classification: Applies convolutional neural networks to classify structural variation genotypes from sequencing-derived representations.
- Sequencing Data Image Transformation: Converts next-generation sequencing data into image-based representations to enable visual pattern recognition by CNN models.
- Convolutional Bootstrapping Strategy: Implements convolutional bootstrapping to improve robustness and reduce the impact of noisy labels during genotype prediction.
Scientific Applications:
- Structural Variation Genotyping: Identifies and classifies structural variation genotypes from next-generation sequencing datasets.
- Genomic Variation Analysis: Supports studies of genetic diversity, disease-associated variants, and evolutionary genomics.
Methodology:
Cnngeno transforms next-generation sequencing data into image-based representations, applies convolutional neural network models for genotype classification, and uses convolutional bootstrapping to mitigate the effects of noisy training labels.
Topics
Details
- Tool Type:
- command-line tool
- Operating Systems:
- Linux
- Programming Languages:
- Python
- Added:
- 6/14/2021
- Last Updated:
- 8/23/2021
Operations
Publications
Bai R, Ling C, Cai L, Gao J. Cnngeno: A high-precision deep learning based strategy for the calling of structural variation genotype. Computational Biology and Chemistry. 2021;94:107417. doi:10.1016/j.compbiolchem.2020.107417. PMID:33810991.
PMID: 33810991
Funding: - Natural Science Foundation of Beijing Municipality: 5182018
Links
Issue tracker
https://github.com/BRF123/Cnngeno/issues