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
Xue Feng, Ru Shan, Xiaomeng Hu
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...... hiện toàn bộ
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
Ching-Yuan Wang, Yen-An Tang, I-Wen Lee, Fong-Ming Chang, Chun-Wei Chien, Hsien-An Pan, H. Sunny Sun
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...... hiện toàn bộ
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
Kensuke Suzuki, Hiroshi Harada, Masayuki Takeda, Chisato Ohe, Yoshiko Uemura, Akihiko Kawahara, Shunsuke Sawada, Akira Kanda, Bhaswati Sengupta, Hiroshi Iwai
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...... hiện toàn bộ
Development of somatic mutation signatures for risk stratification and prognosis in lung and colorectal adenocarcinomas
BMC Medical Genomics - - 2019
Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang, Youping Deng
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
Matteo Comin, Michele Schimd
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 ...... hiện toàn bộ
Identification of potential biomarkers and therapeutic targets for posttraumatic acute respiratory distress syndrome
BMC Medical Genomics - Tập 16 Số 1
Qi Peng, Mengjie Huang, Tanshi Li
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 th...... hiện toàn bộ
Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer
BMC Medical Genomics - Tập 7 Số 1 - 2014
Devin C. Koestler, Prabhakar Chalise, Mine S. Cicek, Julie M. Cunningham, Sebastian M. Armasu, Melissa C. Larson, Jeremy Chien, Matthew S. Block, Kimberly R. Kalli, Thomas A. Sellers, Brooke L. Fridley, Ellen L. Goode
Subtypes of primary colorectal tumors correlate with response to targeted treatment in colorectal cell lines
BMC Medical Genomics - Tập 5 - Trang 1-15 - 2012
Andreas Schlicker, Garry Beran, Christine M Chresta, Gael McWalter, Alison Pritchard, Susie Weston, Sarah Runswick, Sara Davenport, Kerry Heathcote, Denis Alferez Castro, George Orphanides, Tim French, Lodewyk FA Wessels
Colorectal cancer (CRC) is a heterogeneous and biologically poorly understood disease. To tailor CRC treatment, it is essential to first model this heterogeneity by defining subtypes of patients with homogeneous biological and clinical characteristics and second match these subtypes to cell lines for which extensive pharmacological data is available, thus linking targeted therapies to patients mos...... hiện toàn bộ
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
BMC Medical Genomics - Tập 15 Số 1 - 2022
H. Sahli, Rym Meddeb, M. Chérif, C. Nasr, Aouatef Riahi, Samia Hannachi, Neïla Belguith, Ridha Mrad
Abstract Background Li–Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study with a confirmed LFS was published. ...... hiện toàn bộ
Fuzzy set-based generalized multifactor dimensionality reduction analysis of gene-gene interactions
BMC Medical Genomics - Tập 11 - Trang 11-20 - 2018
Hye-Young Jung, Sangseob Leem, Taesung Park
Gene-gene interactions (GGIs) are a known cause of missing heritability. Multifactor dimensionality reduction (MDR) is one of most commonly used methods for GGI detection. The generalized multifactor dimensionality reduction (GMDR) method is an extension of MDR method that is applicable to various types of traits, and allows covariate adjustments. Our previous Fuzzy MDR (FMDR) is another extension...... hiện toàn bộ
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