BMC Medical Genomics
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The linkage of NF-κB signaling pathway-associated long non-coding RNAs with tumor microenvironment and prognosis in cervical cancer
BMC Medical Genomics - Tập 16 - Trang 1-14 - 2023
NF-κB signaling pathway participate closely in regulating inflammation and immune response in many cancers. Long non-coding RNAs (lncRNAs) associated with NF-κB signaling have not been characterized in cervical cancer. This study revealed the linkage between tumor microenvironment and NF-κB signaling-associated lncRNAs in cervical cancer. The expression profiles of cervical cancer samples from The......
Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia
BMC Medical Genomics - Tập 14 - Trang 1-13 - 2021
Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of SD using ultrasonography suffers from lower accuracy and performed at latter gestational stage. Therefore, it remains in......
Clinicopathological investigation of secretory carcinoma cases including a successful treatment outcome using entrectinib for high-grade transformation: a case report
BMC Medical Genomics - Tập 15 - Trang 1-13 - 2022
Secretory carcinoma (SC) of the salivary gland is a recently described malignant tumor harboring characteristic ETV6-NTRK3 gene fusion. SC generally has a favorable clinical course, and is currently regarded as a low-grade carcinoma. However, a small subset of SCs demonstrates aggressive clinical features with histologically high-grade transformed morphology, the molecular pathogenesis of which ha......
Development of somatic mutation signatures for risk stratification and prognosis in lung and colorectal adenocarcinomas
BMC Medical Genomics - - 2019
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes
BMC Medical Genomics - Tập 5 - Trang 1-12 - 2012
Next-generation DNA sequencing is opening new avenues for genetic association studies in common diseases that, like deep vein thrombosis (DVT), have a strong genetic predisposition still largely unexplained by currently identified risk variants. In order to develop sequencing and analytical pipelines for the application of next-generation sequencing to complex diseases, we conducted a pilot study ......
Transforming growth factor β receptor 1 is a new candidate prognostic biomarker after acute myocardial infarction
BMC Medical Genomics - Tập 4 - Trang 1-13 - 2011
Prediction of left ventricular (LV) remodeling after acute myocardial infarction (MI) is clinically important and would benefit from the discovery of new biomarkers. Blood samples were obtained upon admission in patients with acute ST-elevation MI who underwent primary percutaneous coronary intervention. Messenger RNA was extracted from whole blood cells. LV function was evaluated by echocardiogra......
Transcriptomic epidemiology of smoking: the effect of smoking on gene expression in lymphocytes
BMC Medical Genomics - Tập 3 - Trang 1-11 - 2010
This investigation offers insights into system-wide pathological processes induced in response to cigarette smoke exposure by determining its influences at the gene expression level. We obtained genome-wide quantitative transcriptional profiles from 1,240 individuals from the San Antonio Family Heart Study, including 297 current smokers. Using lymphocyte samples, we identified 20,413 transcripts w......
Fast comparison of genomic and meta-genomic reads with alignment-free measures based on quality values
BMC Medical Genomics - Tập 9 - Trang 41-50 - 2016
Sequencing technologies are generating enormous amounts of read data, however assembly of genomes and metagenomes remain among the most challenging tasks. In this paper we study the comparison of genomes and metagenomes only based on read data, using word counts statistics called alignment-free thus not requiring reference genomes or assemblies. Quality scores produced by sequencing platforms are ......
Identification of potential biomarkers and therapeutic targets for posttraumatic acute respiratory distress syndromeAbstract
Background
Despite improved supportive care, posttraumatic acute respiratory distress syndrome (ARDS) mortality has improved very little in recent years. Additionally, ARDS diagnosis is delayed or missed in many patients. We analyzed co-differentially expressed genes (co-DEGs) to explore th... ...
BMC Medical Genomics - Tập 16 Số 1
Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer
BMC Medical Genomics - Tập 7 Số 1 - 2014
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