Deep Learning in Medicine: An Introduction and Applications to Next-generation Sequencing and Disease Diagnostics

Deep learning has enabled dramatic advances in image recognition performance. In this talk I will discuss using a deep convolutional neural network to detect genetic variation in aligned next-generation sequencing human read data. Our method, called DeepVariant, both outperforms existing genotyping tools and generalizes across genome builds and even to other species. DeepVariant represents a significant step from expert-driven statistical modeling towards more automatic deep learning approaches for developing software to interpret biological instrumentation data.