In this paper, we provide an introduction to machine learning tasks that address important problems in genomic medicine. One of the goals of genomic medicine is to determine how …
Identifying functional effects of noncoding variants is a major challenge in human genetics. To predict the noncoding-variant effects de novo from sequence, we developed a deep …
How noncoding DNA determines gene expression in different cell types is a major unsolved problem, and critical downstream applications in human genetics depend on improved …
Z Zhang, CY Park, CL Theesfeld… - Nature Machine …, 2021 - nature.com
Convolutional neural networks (CNNs) have become a standard for analysis of biological sequences. Tuning of network architectures is essential for a CNN's performance, yet it …
The human genome is now investigated through high-throughput functional assays, and through the generation of population genomic data. These advances support the …
A Sasse, B Ng, AE Spiro, S Tasaki, DA Bennett… - Nature Genetics, 2023 - nature.com
Deep learning methods have recently become the state of the art in a variety of regulatory genomic tasks,,,,–, including the prediction of gene expression from genomic DNA. As such …
Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional …
DR Kelley - PLoS computational biology, 2020 - journals.plos.org
Machine learning algorithms trained to predict the regulatory activity of nucleic acid sequences have revealed principles of gene regulation and guided genetic variation …
PK Koo, M Ploenzke - Current opinion in systems biology, 2020 - Elsevier
Deep learning is a powerful tool for predicting transcription factor binding sites from DNA sequence. Despite their high predictive accuracy, there are no guarantees that a high …