Download full-text PDF

Source
http://dx.doi.org/10.5694/mja17.01176DOI Listing

Publication Analysis

Top Keywords

genome sequencing
4
sequencing better
4
better diagnostic
4
diagnostic yield
4
yield future
4
future exome
4
exome sequencing
4
genome
1
better
1
diagnostic
1

Similar Publications

Venous Endothelial Cell Transcriptomic Profiling Implicates METAP1 in Preeclampsia.

Circ Res

December 2024

Cardiovascular Research Center, Massachusetts General Hospital, Boston. (C.C., P.X., Z.Y., Y.S., E.S.L., J.D.R., M.C.H.).

Background: Preeclampsia is a hypertensive disorder of pregnancy characterized by systemic endothelial dysfunction. The pathophysiology of preeclampsia remains incompletely understood. This study used human venous endothelial cell (EC) transcriptional profiling to investigate potential novel mechanisms underlying EC dysfunction in preeclampsia.

View Article and Find Full Text PDF

Purpose: Multigene assays guide treatment decisions in early-stage hormone receptor-positive breast cancer. OncoFREE, a next-generation sequencing assay using 179 genes, was developed for this purpose. This study aimed to evaluate the concordance between the Oncotype DX (ODX) Recurrence Score (RS) and the OncoFREE Decision Index (DI) and to compare their performance.

View Article and Find Full Text PDF

Purpose: TP53 mutations are common in head and neck squamous cell carcinoma (HNSCC). We evaluated their clinical impact in patients treated with targeted agents or immunotherapy in the KCSG HN15-16 TRIUMPH trial.

Materials And Methods: We analyzed clinical characteristics and outcomes of patients with TP53 mutations in the TRIUMPH trial, a multicenter, biomarker-driven umbrella trial in Korea.

View Article and Find Full Text PDF

Purpose: This study aimed to conduct a comprehensive genetic analysis of patients with Langerhans cell histiocytosis (LCH), focusing on the frequency of MAPK pathway mutations, detailed mutation profiles of MAPK pathway genes, and their correlation with clinical features and prognosis in Korean LCH patients.

Materials And Methods: We performed targeted next-generation sequencing, capable of capturing exons from 382 cancer-related genes, on genomic DNA extracted from formaldehyde-fixed and paraffin-embedded samples of 45 pathologically confirmed LCH patients.

Results: The majority of patients (91.

View Article and Find Full Text PDF

Polyethylene (PE) is the most-produced polyolefin, and consequently, it is the most widely found plastic waste worldwide. PE biodegradation is under study by applying different (micro)organisms in order to understand the biodegradative mechanism in the majority of microbes. This study aims to identify novel bacterial species with compelling metabolic potential and strategic genetic repertoires for PE biodegradation.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!