Efficient HLA imputation from sequential SNPs data by Transformer

Human leukocyte antigen (HLA) genes are associated with a variety of diseases, however direct typing of HLA is time and cost consuming. Thus various imputation methods using sequential SNPs data have been proposed based on statistical or deep learning models, e.g. CNN-based model, named DEEP*HLA. However, imputation efficiency is not sufficient for in frequent alleles and a large size of reference panel is required. Here, we developed a Transformer-based model to impute HLA alleles, named "HLA Reliable IMputatioN by Transformer (HLARIMNT)" to take advantage of sequential nature of SNPs data. We validated the performance of HLARIMNT using two different reference panels; Pan-Asian reference panel (n = 530) and Type 1 Diabetes Genetics Consortium (T1DGC) reference panel (n = 5,225), as well as the mixture of those two panels (n = 1,060). HLARIMNT achieved higher accuracy than DEEP*HLA by several indices, especially for infrequent alleles. We also varied the size of data used for training, and HLARIMNT imputed more accurately among any size of training data. These results suggest that Transformer-based model may impute efficiently not only HLA types but also any other gene types from sequential SNPs data.

General-to-Detailed GAN for Infrequent Class Medical Images

Deep learning has significant potential for medical imaging. However, since the incident rate of each disease varies widely, the frequency of classes in a medical image dataset is imbalanced, leading to poor accuracy for such infrequent classes. One possible solution is data augmentation of infrequent classes using synthesized images created by Generative Adversarial Networks (GANs), but conventional GANs also require certain amount of images to learn. To overcome this limitation, here we propose General-to-detailed GAN (GDGAN), serially connected two GANs, one for general labels and the other for detailed labels. GDGAN produced diverse medical images, and the network trained with an augmented dataset outperformed other networks using existing methods with respect to Area-Under-Curve (AUC) of Receiver Operating Characteristic (ROC) curve.