The price of whole-genome and -exome sequencing has fallen to the point where these methods can be applied to clinical medicine. Here, we outline the lessons we have learned in converting a sequencing laboratory designed for research into a fully functional clinical program.
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| http://dx.doi.org/10.1126/scitranslmed.3006468 | DOI Listing |
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Optimization of Clozapine Treatment: Study of Variables Affecting Response in Uruguayan Patients With Schizophrenia.
J Clin Psychopharmacol
December 2024
Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo.
Purpose/background: Clozapine is the recommended drug for treatment-resistant schizophrenia. Drug response could be affected by numerous factors such as age, sex, body mass index, co-medication, consumption of xanthine-containing beverages, smoking, and genetic variants of the enzymes involved in clozapine metabolism (CYP1A2, CYP3A4, and, to a lesser extent, CYP2C19 and CYP2D6). This study evaluated genetic and nongenetic variables that may affect clozapine plasma concentrations in Uruguayan patients with schizophrenia.
View Article and Find Full Text PDFConstruction and validation of a regulatory T cells-based classification of renal cell carcinoma: an integrated bioinformatic analysis and clinical cohort study.
Cell Oncol (Dordr)
December 2024
Department of Urology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Purpose: Renal cell carcinoma (RCC), exhibiting remarkable heterogeneity, can be highly infiltrated by regulatory T cells (Tregs). However, the relationship between Treg and the heterogeneity of RCC remains to be explored.
Methods: We acquired single-cell RNA-seq profiles and 537 bulk RNA-seq profiles of TCGA-KIRC cohort.
Machine learning-based identification of histone deacetylase-associated prognostic factors and prognostic modeling for low-grade glioma.
Discov Oncol
December 2024
Department of Radiation Oncology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
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View Article and Find Full Text PDFPrognostic and immunological role of LASP2 in clear cell renal cell carcinoma.
Genes Genomics
December 2024
Department of Urology, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, No. 63, Huang Tang Road, Meizhou, 514031, Guangdong Province, People's Republic of China.
Background: Clear cell renal cell carcinoma (ccRCC) represents a common renal carcinoma subtype influenced by the immune microenvironment. LIM and SH3 Protein 2 (LASP2), an actin-binding protein within the nebulin family, contributes to cellular immunity and adhesion mechanisms.
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