Artificial intelligence, healthcare, clinical genomics, and pharmacogenomics approaches in precision medicine

H Abdelhalim, A Berber, M Lodi, R Jain, A Nair… - Frontiers in …, 2022 - frontiersin.org
Precision medicine has greatly aided in improving health outcomes using earlier diagnosis
and better prognosis for chronic diseases. It makes use of clinical data associated with the …

implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives

P Brlek, L Bulić, M Bračić, P Projić, V Škaro, N Shah… - Cells, 2024 - mdpi.com
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia

EJ Duncavage, A Bagg, RP Hasserjian… - Blood, The Journal …, 2022 - ashpublications.org
Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic
cells driven by somatic gene mutations. Although assessment of morphology plays a crucial …

[HTML][HTML] Molecular profiling in cholangiocarcinoma: a practical guide to next-generation sequencing

A Stenzinger, A Vogel, U Lehmann, A Lamarca… - Cancer Treatment …, 2023 - Elsevier
Cholangiocarcinomas (CCA) are a heterogeneous group of tumors that are classified as
intrahepatic, perihilar, or distal according to the anatomic location within the biliary tract …

Deep-learning model for tumor-type prediction using targeted clinical genomic sequencing data

M Darmofal, S Suman, G Atwal, M Toomey, JF Chen… - Cancer discovery, 2024 - AACR
Tumor type guides clinical treatment decisions in cancer, but histology-based diagnosis
remains challenging. Genomic alterations are highly diagnostic of tumor type, and tumor …

The future of blood testing is the immunome

RA Arnaout, ETL Prak, N Schwab, F Rubelt… - Frontiers in …, 2021 - frontiersin.org
It is increasingly clear that an extraordinarily diverse range of clinically important conditions—
including infections, vaccinations, autoimmune diseases, transplants, transfusion reactions …

Whole genome sequencing in clinical practice

FO Bagger, L Borgwardt, AS Jespersen… - BMC Medical …, 2024 - Springer
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Clinically relevant fusion oncogenes: Detection and practical implications

M Sorokin, E Rabushko… - Therapeutic …, 2022 - journals.sagepub.com
Mechanistically, chimeric genes result from DNA rearrangements and include parts of
preexisting normal genes combined at the genomic junction site. Some rearranged genes …

Bioinformatics: from NGS data to biological complexity in variant detection and oncological clinical practice

S Dotolo, R Esposito Abate, C Roma, D Guido… - Biomedicines, 2022 - mdpi.com
The use of next-generation sequencing (NGS) techniques for variant detection has become
increasingly important in clinical research and in clinical practice in oncology. Many cancer …

[HTML][HTML] TBC1D14 inhibits autophagy to suppress lymph node metastasis in head and neck squamous cell carcinoma by downregulating macrophage erythroblast …

T Lu, Y Li, M Pan, D Yu, Z Wang, C Liu… - International Journal of …, 2022 - ncbi.nlm.nih.gov
Aims: This study aimed to identify the correlation and molecular mechanism between TBC1
domain family member 14 (TBC1D14) and lymph node metastasis (LNM) in head and neck …