[HTML][HTML] Application of Genomic Data in Translational Medicine During the Big Data Era

Y Zhang, J Yu, X Xie, F Jiang, C Wu - Frontiers in Bioscience …, 2024 - imrpress.com
Advances in gene sequencing technology and decreasing costs have resulted in a
proliferation of genomic data as an integral component of big data. The availability of vast …

Advancing health through artificial intelligence/machine learning: the critical importance of multidisciplinary collaboration

MM Bertagnolli - PNAS Nexus, 2023 - academic.oup.com
The application of artificial intelligence/machine learning (AI/ML) to study and improve
health is generating tremendous interest throughout the biomedical research community …

[图书][B] Big data in omics and imaging: integrated analysis and causal inference

M Xiong - 2018 - books.google.com
Big Data in Omics and Imaging: Integrated Analysis and Causal Inference addresses the
recent development of integrated genomic, epigenomic and imaging data analysis and …

Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants

S Song, N Shan, G Wang, X Yan, JS Liu, L Hou - Bioinformatics, 2021 - academic.oup.com
Motivation Identification and interpretation of non-coding variations that affect disease risk
remain a paramount challenge in genome-wide association studies (GWAS) of complex …

Translational bioinformatics for genomic medicine

AJ Butte, D Chen - Genomic and Personalized Medicine: V1-2, 2012 - books.google.com
Imagine a major primate core facility at a top-tier academic medical school. This primate
facility has studied 100,000 primates over the past decade, modeling over 8000 different …

postGWAS: A web server for deciphering the causality post the genome-wide association studies

T Wang, Z Yan, Y Zhang, Z Lou, X Zheng… - Computers in Biology …, 2024 - Elsevier
While genome-wide association studies (GWAS) have unequivocally identified vast disease
susceptibility variants, a majority of them are situated in non-coding regions and are in high …

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

MJ Li, Z Liu, P Wang, MP Wong, MR Nelson… - Nucleic acids …, 2016 - academic.oup.com
Genome-wide association studies (GWASs), now as a routine approach to study single-
nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand …

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

A Buniello, JAL MacArthur, M Cerezo… - Nucleic acids …, 2019 - academic.oup.com
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …

Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants

Z Wang, G Zhao, B Li, Z Fang, Q Chen… - Genomics …, 2023 - academic.oup.com
Non-coding variants in the human genome significantly influence human traits and complex
diseases via their regulation and modification effects. Hence, an increasing number of …

Artificial intelligence for precision medicine in neurodevelopmental disorders

M Uddin, Y Wang, M Woodbury-Smith - NPJ digital medicine, 2019 - nature.com
The ambition of precision medicine is to design and optimize the pathway for diagnosis,
therapeutic intervention, and prognosis by using large multidimensional biological datasets …