BioinformaticsNAR Genomics and BioinformaticsPeer-reviewed
Exploring the impact of sequence context on errors in SNP genotype calling with Whole Genome Sequencing data using AI-based autoencoder approach
Krzysztof Kotlarz, Magda Mielczarek, Przemysław Biecek…·Joanna Szyda
The paper uses an autoencoder to identify systematic errors in SNP genotype calling from WGS data by analyzing sequence context and quality metrics.