Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasiaBMC 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 reportBMC 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
Fast comparison of genomic and meta-genomic reads with alignment-free measures based on quality valuesBMC 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
Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancerBMC 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 linesBMC 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
Fuzzy set-based generalized multifactor dimensionality reduction analysis of gene-gene interactionsBMC 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