Biomimetic Digital Twins and Multiomics: Applications to Rheumatoid Arthritis and the Potential Reclassification of Variants of Unknown Clinical Significance.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Lawrence Baisch, Andrew Benner, Dalton Brough, Luke Du, Chandra Germain, Joe Glick, Laura Kearns, William G Kearns, Georgios Stamoulis

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : The Journal of molecular diagnostics : JMD , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 123046

The National Academies of Science issued a report on 12.15.23 "Foundational Research Gaps and Future Directions for Digital Twins". This described the importance of using Biomimetic Digital Twins and multiomics in research. We incorporated these in our analysis of patients with rheumatoid arthritis (RA). We performed exome sequencing, genotype-phenotype ranking, and Biomimetic Digital Twin analysis. We identified 5 pathogenic, and 1 likely pathogenic DNA variants in patient samples analyzed but absent from controls. The variants identified in these genes, P2RX7, HTRA2, PTPN22, FLG, CD46, and EIF4G1 play a role in the development of RA. We also identified 3172 variants of unknown clinical significance (VUSs) in patient samples, absent from controls. All VUSs appeared to be associated with RA. We identified hidden or dark data from 6genes. The genes often found in patient samples included genes HIF1A, HLA-DOA, PTGER3, HIPK3, TGFBR3 and HIF1A-AS3. VUSs identified in genes HIF1A, HLA-DOA, PTGER3, HIPK3 are directly related to the pathogenesis of RA, whereas VUSs identified in genes TGFBR3 and HIF1A-AS3 are indirectly related. Our results suggest that by using Biomimetic Digital Twins and multiomics, we can gain more insight into the development of RA. We can also potentially begin the process of reclassifying VUSs. The reclassification of VUSs will play a critical role in complex molecular diagnostics and drug development.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH