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 syndrome
BMC Medical Genomics - Tập 16 Số 1
Abstract 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 the
relationships between severe trauma and ARDS to reveal potential biomarkers and
therapeutic target...
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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