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