A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Multi-omics profiling for health

M Babu, M Snyder - Molecular & Cellular Proteomics, 2023 - ASBMB
The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …

scGPT: toward building a foundation model for single-cell multi-omics using generative AI

H Cui, C Wang, H Maan, K Pang, F Luo, N Duan… - Nature …, 2024 - nature.com
Generative pretrained models have achieved remarkable success in various domains such
as language and computer vision. Specifically, the combination of large-scale diverse …

Majorbio Cloud: A one‐stop, comprehensive bioinformatic platform for multiomics analyses

Y Ren, G Yu, C Shi, L Liu, Q Guo, C Han, D Zhang… - IMeta, 2022 - Wiley Online Library
The rapid developments of high‐throughput sequencing technology in the last decade
allowed the emergence of multiomics analyses. Analytic platforms for high‐throughput omics …

Graph neural networks: foundation, frontiers and applications

L Wu, P Cui, J Pei, L Zhao, X Guo - … of the 28th ACM SIGKDD Conference …, 2022 - dl.acm.org
The field of graph neural networks (GNNs) has seen rapid and incredible strides over the
recent years. Graph neural networks, also known as deep learning on graphs, graph …

DNA-framework-based multidimensional molecular classifiers for cancer diagnosis

F Yin, H Zhao, S Lu, J Shen, M Li, X Mao, F Li… - Nature …, 2023 - nature.com
A molecular classification of diseases that accurately reflects clinical behaviour lays the
foundation of precision medicine. The development of in silico classifiers coupled with …

A roadmap for multi-omics data integration using deep learning

M Kang, E Ko, TB Mersha - Briefings in Bioinformatics, 2022 - academic.oup.com
High-throughput next-generation sequencing now makes it possible to generate a vast
amount of multi-omics data for various applications. These data have revolutionized …

State of the field in multi-omics research: from computational needs to data mining and sharing

M Krassowski, V Das, SK Sahu, BB Misra - Frontiers in Genetics, 2020 - frontiersin.org
Multi-omics, variously called integrated omics, pan-omics, and trans-omics, aims to combine
two or more omics data sets to aid in data analysis, visualization and interpretation to …

Digital twins for multiple sclerosis

I Voigt, H Inojosa, A Dillenseger, R Haase… - Frontiers in …, 2021 - frontiersin.org
An individualized innovative disease management is of great importance for people with
multiple sclerosis (pwMS) to cope with the complexity of this chronic, multidimensional …

Machine learning for multi-omics data integration in cancer

Z Cai, RC Poulos, J Liu, Q Zhong - Iscience, 2022 - cell.com
Multi-omics data analysis is an important aspect of cancer molecular biology studies and
has led to ground-breaking discoveries. Many efforts have been made to develop machine …