journal
MENU ▼
Read by QxMD icon Read
search

BMC Medical Genomics

journal
https://www.readbyqxmd.com/read/28222731/genomic-newborn-screening-public-health-policy-considerations-and-recommendations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28117657/rules-of-co-occurring-mutations-characterize-the-antigenic-evolution-of-human-influenza-a-h3n2-a-h1n1-and-b-viruses
#13
Haifen Chen, Xinrui Zhou, Jie Zheng, Chee-Keong Kwoh
BACKGROUND: The human influenza viruses undergo rapid evolution (especially in hemagglutinin (HA), a glycoprotein on the surface of the virus), which enables the virus population to constantly evade the human immune system. Therefore, the vaccine has to be updated every year to stay effective. There is a need to characterize the evolution of influenza viruses for better selection of vaccine candidates and the prediction of pandemic strains. Studies have shown that the influenza hemagglutinin evolution is driven by the simultaneous mutations at antigenic sites...
December 5, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/28117656/epigenetic-profiling-of-human-brain-differential-dna-methylation-networks-in-schizophrenia
#14
Sheng-An Lee, Kuo-Chuan Huang
BACKGROUND: Epigenetics of schizophrenia provides important information on how the environmental factors affect the genetic architecture of the disease. DNA methylation plays a pivotal role in etiology for schizophrenia. Previous studies have focused mostly on the discovery of schizophrenia-associated SNPs or genetic variants. As postmortem brain samples became available, more and more recent studies surveyed transcriptomics of the diseases. In this study, we constructed protein-protein interaction (PPI) network using the disease associated SNP (or genetic variants), differentially expressed disease genes and differentially methylated disease genes (or promoters)...
December 5, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/28117655/gsnfs-gene-subnetwork-biomarker-identification-of-lung-cancer-expression-data
#15
Narumol Doungpan, Worrawat Engchuan, Jonathan H Chan, Asawin Meechai
BACKGROUND: Gene expression has been used to identify disease gene biomarkers, but there are ongoing challenges. Single gene or gene-set biomarkers are inadequate to provide sufficient understanding of complex disease mechanisms and the relationship among those genes. Network-based methods have thus been considered for inferring the interaction within a group of genes to further study the disease mechanism. Recently, the Gene-Network-based Feature Set (GNFS), which is capable of handling case-control and multiclass expression for gene biomarker identification, has been proposed, partly taking into account of network topology...
December 5, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/28117654/fuzzy-fishnet-a-highly-reproducible-protein-complex-based-approach-for-feature-selection-in-comparative-proteomics
#16
Wilson Wen Bin Goh
BACKGROUND: The hypergeometric enrichment analysis approach typically fares poorly in feature-selection stability due to its upstream reliance on the t-test to generate differential protein lists before testing for enrichment on a protein complex, subnetwork or gene group. METHODS: Swapping the t-test in favour of a fuzzy rank-based weight system similar to that used in network-based methods like Quantitative Proteomics Signature Profiling (QPSP), Fuzzy SubNets (FSNET) and paired FSNET (PFSNET) produces dramatic improvements...
December 5, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27884142/dna-methylation-patterns-associated-with-oxidative-stress-in-an-ageing-population
#17
Åsa K Hedman, Mihkel Zilmer, Johan Sundström, Lars Lind, Erik Ingelsson
BACKGROUND: Oxidative stress has been related to type 2 diabetes (T2D) and cardiovascular disease (CVD), the leading global cause of death. Contributions of environmental factors such as oxidative stress on complex traits and disease may be partly mediated through changes in epigenetic marks (e.g. DNA methylation). Studies relating differential methylation with intermediate phenotypes and disease endpoints may be useful in identifying additional candidate genes and mechanisms involved in disease...
November 25, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27871291/-a-rising-tide-lifts-all-boats-establishing-a-multidisciplinary-genomic-tumor-board-for-breast-cancer-patients-with-advanced-disease
#18
Michelle L McGowan, Roselle S Ponsaran, Paula Silverman, Lyndsay N Harris, Patricia A Marshall
BACKGROUND: Research suggests that multidisciplinary genomic tumor boards (MGTB) can inform cancer patient care, though little is known about factors influencing how MGTBs interpret genomic test results, make recommendations, and perceive the utility of this approach. This study's objective was to observe, describe, and assess the establishment of the Breast Multidisciplinary Genomic Tumor Board, the first MGTB focused on interpreting genomic test results for breast cancer patients with advanced disease...
November 21, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27846842/a-meta-analysis-of-public-microarray-data-identifies-gene-regulatory-pathways-deregulated-in-peripheral-blood-mononuclear-cells-from-individuals-with-systemic-lupus-erythematosus-compared-to-those-without
#19
Wendy Kröger, Darlington Mapiye, Jean-Baka Domelevo Entfellner, Nicki Tiffin
BACKGROUND: Systemic Lupus Erythematosus (SLE) is a complex, multi-systemic, autoimmune disease for which the underlying aetiological mechanisms are poorly understood. The genetic and molecular processes underlying lupus have been extensively investigated using a variety of -omics approaches, including genome-wide association studies, candidate gene studies and microarray experiments of differential gene expression in lupus samples compared to controls. METHODS: This study analyses a combination of existing microarray data sets to identify differentially regulated genetic pathways that are dysregulated in human peripheral blood mononuclear cells from SLE patients compared to unaffected controls...
November 15, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27756306/adaptation-of-a-ras-pathway-activation-signature-from-ff-to-ffpe-tissues-in-colorectal-cancer
#20
Bernard Omolo, Mingli Yang, Fang Yin Lo, Michael J Schell, Sharon Austin, Kellie Howard, Anup Madan, Timothy J Yeatman
BACKGROUND: The KRAS gene is mutated in about 40 % of colorectal cancer (CRC) cases, which has been clinically validated as a predictive mutational marker of intrinsic resistance to anti-EGFR inhibitor (EGFRi) therapy. Since nearly 60 % of patients with a wild type KRAS fail to respond to EGFRi combination therapies, there is a need to develop more reliable molecular signatures to better predict response. Here we address the challenge of adapting a gene expression signature predictive of RAS pathway activation, created using fresh frozen (FF) tissues, for use with more widely available formalin fixed paraffin-embedded (FFPE) tissues...
October 19, 2016: BMC Medical Genomics
journal
journal
41803
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"