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BMC Medical Genomics

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https://www.readbyqxmd.com/read/28315634/comparing-mutation-calls-in-fixed-tumour-samples-between-the-affymetrix-oncoscan%C3%A2-array-and-pcr-based-next-generation-sequencing
#1
Henry M Wood, Joseph M Foster, Morag Taylor, Emma Tinkler-Hundal, Fiona S Togneri, Paula Wojtowicz, Assa Oumie, Karen G Spink, Fiona Brew, Philip Quirke
BACKGROUND: The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platform is designed to produce actionable mutation calls in archival material. METHODS: We compared calls made using the OncoScan platform with calls made using a custom designed PCR panel followed by next-generation sequencing (NGS), in order to benchmark the sensitivity and specificity of the OncoScan calls in a large cohort of fixed tumour samples...
March 18, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28298217/large-scale-gene-network-analysis-reveals-the-significance-of-extracellular-matrix-pathway-and-homeobox-genes-in-acute-myeloid-leukemia-an-introduction-to-the-pigengene-package-and-its-applications
#2
Amir Foroushani, Rupesh Agrahari, Roderick Docking, Linda Chang, Gerben Duns, Monika Hudoba, Aly Karsan, Habil Zare
BACKGROUND: The distinct types of hematological malignancies have different biological mechanisms and prognoses. For instance, myelodysplastic syndrome (MDS) is generally indolent and low risk; however, it may transform into acute myeloid leukemia (AML), which is much more aggressive. METHODS: We develop a novel network analysis approach that uses expression of eigengenes to delineate the biological differences between these two diseases. RESULTS: We find that specific genes in the extracellular matrix pathway are underexpressed in AML...
March 16, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28298214/climat-het-detecting-subclonal-copy-number-alterations-and-loss-of-heterozygosity-in-heterogeneous-tumor-samples-from-whole-genome-sequencing-data
#3
Zhenhua Yu, Ao Li, Minghui Wang
BACKGROUND: Copy number alterations (CNA) and loss of heterozygosity (LOH) represent a large proportion of genetic structural variations of cancer genomes. These aberrations are continuously accumulated during the procedure of clonal evolution and patterned by phylogenetic branching. This invariably results in the emergence of multiple cell populations with distinct complement of mutational landscapes in tumor sample. With the advent of next-generation sequencing technology, inference of subclonal populations has become one of the focused interests in cancer-associated studies, and is usually based on the assessment of combinations of somatic single-nucleotide variations (SNV), CNA and LOH...
March 15, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28292312/comprehensive-discovery-of-subsample-gene-expression-components-by-information-explanation-therapeutic-implications-in-cancer
#4
Shirley Pepke, Greg Ver Steeg
BACKGROUND: De novo inference of clinically relevant gene function relationships from tumor RNA-seq remains a challenging task. Current methods typically either partition patient samples into a few subtypes or rely upon analysis of pairwise gene correlations that will miss some groups in noisy data. Leveraging higher dimensional information can be expected to increase the power to discern targetable pathways, but this is commonly thought to be an intractable computational problem. METHODS: In this work we adapt a recently developed machine learning algorithm for sensitive detection of complex gene relationships...
March 15, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28279210/computational-analysis-of-the-mesenchymal-signature-landscape-in-gliomas
#5
Orieta Celiku, Anita Tandle, Joon-Yong Chung, Stephen M Hewitt, Kevin Camphausen, Uma Shankavaram
BACKGROUND: Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While a number of studies have proposed molecular signatures that characterize the spectrum of such transition, more work is needed to understand how the mesenchymal signature (MS) is regulated in non-epithelial cancers like gliomas, to identify markers with the most prognostic significance, and potential for therapeutic targeting...
March 9, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28279176/palb2-mutations-in-brca1-2-mutation-negative-breast-and-ovarian-cancer-patients-from-poland
#6
Anna Kluska, Aneta Balabas, Magdalena Piatkowska, Katarzyna Czarny, Katarzyna Paczkowska, Dorota Nowakowska, Michal Mikula, Jerzy Ostrowski
BACKGROUND: The PALB2 gene encodes a protein that plays a crucial role in maintaining genomic integrity. Germline inactivating mutations in PALB2 are associated with an increased risk of breast and ovarian cancer. The prevalence and spectrum of recurrent PALB2 germline mutations in breast and ovarian cancer patients from Poland is not clearly defined. METHODS: PALB2 exons were amplified from 460 BRCA1/2-mutation negative women with familial breast and/or ovarian cancer and early-onset breast cancer using AmpliSeq technology and sequenced on an Ion Torrent PGM sequencer...
March 9, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28231836/epigenetic-modifications-and-glucocorticoid-sensitivity-in-myalgic-encephalomyelitis-chronic-fatigue-syndrome-me-cfs
#7
Wilfred C de Vega, Santiago Herrera, Suzanne D Vernon, Patrick O McGowan
BACKGROUND: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of symptoms and exclusion of other fatigue-related health conditions. Despite a heterogeneous patient population, immune and hypothalamic-pituitary-adrenal (HPA) axis function differences, such as enhanced negative feedback to glucocorticoids, are recurring findings in ME/CFS studies...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28228131/whole-genome-sequencing-of-one-complex-pedigree-illustrates-challenges-with-genomic-medicine
#8
Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang, Gholson J Lyon
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28222731/genomic-newborn-screening-public-health-policy-considerations-and-recommendations
#9
Jan M Friedman, Martina C Cornel, Aaron J Goldenberg, Karla J Lister, Karine Sénécal, Danya F Vears
BACKGROUND: The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today. METHODS: The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers...
February 21, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28202063/next-generation-sequencing-in-familial-breast-cancer-patients-from-lebanon
#10
Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J Marafie, Mohamed R Al-Mulla, Fahd Al-Mulla, Andre Megarbane
BACKGROUND: Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16-40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported prevalence of BRCA1 and BRCA2 deleterious mutations (5.6% and 12.5%) were lower than those reported in the literature. METHODS: In the presented study, 45 Lebanese patients with a reported family history of BC were tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation...
February 15, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28143555/investigation-of-coordination-and-order-in-transcription-regulation-of-innate-and-adaptive-immunity-genes-in-type-1-diabetes
#11
Shouguo Gao, Nathaniel Wolanyk, Ye Chen, Shuang Jia, Martin J Hessner, Xujing Wang
BACKGROUND: Type 1 diabetes (T1D) is an autoimmune disease and extensive evidence has indicated a critical role of both the innate and the adaptive arms of immune system in disease development. To date most clinical trials of immunomodulation therapies failed to show efficacy. A number of gene expression studies of T1D have been carried out. However, a systems analysis of the expression variations of the innate and adaptive immunity gene sets, or their co-expression network structures in cohorts at different disease states or of different disease risks, is not available till now...
January 31, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28137248/multidisciplinary-insight-into-clonal-expansion-of-htlv-1-infected-cells-in-adult-t-cell-leukemia-via-modeling-by-deterministic-finite-automata-coupled-with-high-throughput-sequencing
#12
Amir Farmanbar, Sanaz Firouzi, Sung-Joon Park, Kenta Nakai, Kaoru Uchimaru, Toshiki Watanabe
BACKGROUND: Clonal expansion of leukemic cells leads to onset of adult T-cell leukemia (ATL), an aggressive lymphoid malignancy with a very poor prognosis. Infection with human T-cell leukemia virus type-1 (HTLV-1) is the direct cause of ATL onset, and integration of HTLV-1 into the human genome is essential for clonal expansion of leukemic cells. Therefore, monitoring clonal expansion of HTLV-1-infected cells via isolation of integration sites assists in analyzing infected individuals from early infection to the final stage of ATL development...
January 31, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28081699/erratum-to-experiences-and-attitudes-of-residents-regarding-a-community-based-genome-cohort-study-in-japan-a-population-based-cross-sectional-study
#13
Keiko Miyamoto, Miho Iwakuma, Takeo Nakayama
No abstract text is available yet for this article.
January 12, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28077143/pregnant-women-carrying-microcephaly-foetuses-and-zika-virus-contain-potentially-pathogenic-microbes-and-parasites-in-their-amniotic-fluid
#14
Diogo Antonio Tschoeke, Louisi Souza de Oliveira, Luciana Leomil, Amilcar Tanuri, Fabiano Lopes Thompson
BACKGROUND: Microcephaly has become a major public health problem in Brazil. The total number of newborns with microcephaly was reported to be >4000 in June 2016. Studies suggest that Zika Virus is a major cause of new microcephaly cases in Brazil. Inside the uterus, the foetus is surrounded by the Amniotic Fluid, a proximal fluid that contains foetal and maternal cells as well as microorganisms and where Zika Virus was already found. CASE PRESENTATION: A previous study reported the presence of the Zika Virus in the amniotic fluid (collected in the 28th gestational week) of two pregnant women carrying microcephaly foetuses in Brazil...
January 11, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28069037/health-and-genetic-ancestry-testing-time-to-bridge-the-gap
#15
Andrew Smart, Deborah A Bolnick, Richard Tutton
BACKGROUND: It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing...
January 9, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28056976/a-novel-approach-to-genome-wide-association-analysis-identifies-genetic-associations-with-primary-biliary-cholangitis-and-primary-sclerosing-cholangitis-in-polish-patients
#16
Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik, Grzegorz Boryczka, Michal Wasilewicz, Irena Ciecko-Michalska, Malgorzata Ferenc, Maria Janiak, Alina Kanikowska, Rafal Stankiewicz, Marek Hartleb, Tomasz Mach, Marian Grzymislawski, Joanna Raszeja-Wyszomirska, Ewa Wunsch, Tomasz Bobinski, Michal Mikula, Jerzy Ostrowski
BACKGROUND: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population. METHODS: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals. Allelotyping employed a pooled-DNA sample-based genome-wide association study (GWAS) approach, using Illumina Human Omni2...
January 6, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28057009/erratum-to-conserved-recurrent-gene-mutations-correlate-with-pathway-deregulation-and-clinical-outcomes-of-lung-adenocarcinoma-in-never-smokers
#17
Zhifu Sun, Liang Wang, Bruce W Eckloff, Bo Deng, Yi Wang, Jason A Wampfler, JinSung Jang, Eric D Wieben, Jin Jen, Ming You, Ping Yang
No abstract text is available yet for this article.
January 5, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/27955658/genetic-study-of-congenital-bile-duct-dilatation-identifies-de-novo-and-inherited-variants-in-functionally-related-genes
#18
John K L Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara S M Tang, Patrick H Y Chung, Ngoc Son Tran, Man-Ting So, Stacey S Cherny, Pak C Sham, Paul K Tam, Maria-Mercè Garcia-Barcelo
BACKGROUND: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. METHODS: We aim to identify genetic risk factors by a "trio-based" exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients...
December 12, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/28117659/gene-masking-a-technique-to-improve-accuracy-for-cancer-classification-with-high-dimensionality-in-microarray-data
#19
Harsh Saini, Sunil Pranit Lal, Vimal Vikash Naidu, Vincel Wince Pickering, Gurmeet Singh, Tatsuhiko Tsunoda, Alok Sharma
BACKGROUND: High dimensional feature space generally degrades classification in several applications. In this paper, we propose a strategy called gene masking, in which non-contributing dimensions are heuristically removed from the data to improve classification accuracy. METHODS: Gene masking is implemented via a binary encoded genetic algorithm that can be integrated seamlessly with classifiers during the training phase of classification to perform feature selection...
December 5, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/28117658/a-pilot-study-on-the-prevalence-of-dna-palindromes-in-breast-cancer-genomes
#20
Sandeep Subramanian, Srilakshmi Chaparala, Viji Avali, Madhavi K Ganapathiraju
BACKGROUND: DNA palindromes are a unique pattern of repeat sequences that are present in the human genome. It consists of a sequence of nucleotides in which the second half is the complement of the first half but appearing in reverse order. These palindromic sequences may have a significant role in DNA replication, transcription and gene regulation processes. They occur frequently in human cancers by clustering at specific locations of the genome that undergo gene amplification and tumorigenesis...
December 5, 2016: BMC Medical Genomics
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