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genomic analysis

Julia H Chariker, Donald M Miller, Eric C Rouchka
G-quadruplex structures (G4) are found throughout the human genome and are known to play a regulatory role in a variety of molecular processes. Structurally, they have many configurations and can form from one or more DNA strands. At the gene level, they regulate gene expression and protein synthesis. In this paper, chromosomal-level patterns of distribution are analyzed on the human genome to identify high-level distribution patterns potentially related to global functional processes. Here we show unique high density banding patterns on individual chromosomes that are highly correlated, appearing in a mirror pattern, across forward and reverse DNA strands...
2016: PloS One
Amy B Wilfert, Katherine R Chao, Madhurima Kaushal, Sanjay Jain, Sebastian Zöllner, David R Adams, Donald F Conrad
Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single exome or genome, what we refer to as the 'n-of-one' problem. Using this approach we assessed our ability to identify the causal genotypes in over 5 million simulated cases of Mendelian disease, identifying 39% of disease genotypes as the most damaging unit in a typical exome background...
October 24, 2016: Nature Genetics
María Muñoz-Amatriaín, Hamid Mirebrahim, Pei Xu, Steve I Wanamaker, MingCheng Luo, Hind Alhakami, Matthew Alpert, Ibrahim Atokple, Benoit Joseph Batieno, Ousmane Boukar, Serdar Bozdag, Ndiaga Cisse, Issa Drabo, Jeffrey D Ehlers, Andrew Farmer, Christian Fatokun, Yong Q Gu, Yi-Ning Guo, Bao-Lam Huynh, Scott A Jackson, Francis Kusi, Cynthia T Lawley, Mitchell R Lucas, Yaqin Ma, Michael P Timko, Jiajie Wu, Frank You, Philip A Roberts, Stefano Lonardi, Timothy J Close
Cowpea (Vigna unguiculata L. Walp.) is a legume crop that is resilient to hot and drought-prone climates, and a primary source of protein in sub-Saharan Africa and other parts of the developing world. However, genome resources for cowpea have lagged behind most other major crops. Here we describe foundational genome resources and their application to analysis of germplasm currently in use in West African breeding programs. Resources developed from the African cultivar IT97K-499-35 include a whole-genome shotgun (WGS) assembly, a bacterial artificial chromosome (BAC) physical map, and assembled sequences from 4,355 BACs...
October 24, 2016: Plant Journal: for Cell and Molecular Biology
Sergey V Malov, Alexey Antonik, Minzhong Tang, Alexandre Berred, Yi Zeng, Stephen J O'Brien
A new approach for statistical association signal identification is developed in this paper. We consider a strategy for nonprecise signal identification by extending the well-known signal detection and signal identification methods applicable to the multiple testing problem. Collection of statistical instruments under the presented approach is much broader than under the traditional signal identification methods, allowing more efficient signal discovery. Further assessments of maximal value and average statistics in signal discovery are improved...
October 24, 2016: Biometrical Journal. Biometrische Zeitschrift
Clyde Manuel, Matthew Moore, Lee-Ann Jaykus
AIMS: Human norovirus is a major public health burden and is resistant to numerous sanitizers and disinfectants. In this study, we tested the efficacy of an antimicrobial product containing a blend of silver ions and citric acid (silver dihydrogen citrate; SDC) against GI.6 and GII.4 HuNoV. METHODS AND RESULTS: Pure(®) hard surface disinfectant (Pure Bioscience, El Cajon, CA) was evaluated using ASTM International virucidal suspension and stainless steel carrier assays...
October 24, 2016: Journal of Applied Microbiology
Pavel Sumazin, Yidong Chen, Lisa R Treviño, Stephen F Sarabia, Oliver A Hampton, Kayuri Patel, Toni-Ann Mistretta, Barry Zorman, Patrick Thompson, Andras Heczey, Sarah Comerford, David A Wheeler, Murali Chintagumpala, Rebecka Meyers, Dinesh Rakheja, Milton J Finegold, Gail Tomlinson, D Williams Parsons, Dolores López-Terrada
Despite being the most common liver cancer in children, hepatoblastoma (HB) is a rare neoplasm. Consequently, few pre-treatment tumors have been molecularly profiled and there are no validated prognostic or therapeutic biomarkers for HB patients. We report on the first large-scale effort to profile pre-treatment HBs at diagnosis. Our analysis of 88 clinically-annotated HBs revealed three risk-stratifying molecular subtypes that are characterized by differential activation of hepatic progenitor cell markers and metabolic pathways: high-risk tumors were characterized by up-regulated NFE2L2 activity, high LIN28B, HMGA2, SALL4 and AFP expression, and high coordinated expression of oncofetal proteins and stem cell markers; while low-risk tumors had low LIN28B and let-7 expression, and high HNF1A activity...
October 24, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Sten König, Olivier Gros, Stefan E Heiden, Tjorven Hinzke, Andrea Thürmer, Anja Poehlein, Susann Meyer, Magalie Vatin, Didier Mbéguié-A-Mbéguié, Jennifer Tocny, Ruby Ponnudurai, Rolf Daniel, Dörte Becher, Thomas Schweder, Stephanie Markert
The shallow water bivalve Codakia orbicularis lives in symbiotic association with a sulfur-oxidizing bacterium in its gills. The endosymbiont fixes CO2 and thus generates organic carbon compounds, which support the host's growth. To investigate the uncultured symbiont's metabolism and symbiont-host interactions in detail we conducted a proteogenomic analysis of purified bacteria. Unexpectedly, our results reveal a hitherto completely unrecognized feature of the C. orbicularis symbiont's physiology: the symbiont's genome encodes all proteins necessary for biological nitrogen fixation (diazotrophy)...
October 24, 2016: Nature Microbiology
Heather J Ruskin
High-throughput microarray technologies have long been a source of data for a wide range of biomedical investigations. Over the decades, variants have been developed and sophistication of measurements has improved, with generated data providing both valuable insight and considerable analytical challenge. The cost-effectiveness of microarrays, as well as their fundamental applicability, made them a first choice for much early genomic research and efforts to improve accessibility, quality and interpretation have continued unabated...
October 21, 2016: Microarrays
Yunpeng Cao, Yahui Han, Dahui Li, Yi Lin, Yongping Cai
In plants, 4-coumarate:coenzyme A ligases (4CLs), comprising some of the adenylate-forming enzymes, are key enzymes involved in regulating lignin metabolism and the biosynthesis of flavonoids and other secondary metabolites. Although several 4CL-related proteins were shown to play roles in secondary metabolism, no comprehensive study on 4CL-related genes in the pear and other Rosaceae species has been reported. In this study, we identified 4CL-related genes in the apple, peach, yangmei, and pear genomes using DNATOOLS software and inferred their evolutionary relationships using phylogenetic analysis, collinearity analysis, conserved motif analysis, and structure analysis...
October 19, 2016: Genes
Rahul A Bharadwaj, Andrew E Jaffe, Qiang Chen, Amy Deep-Soboslay, Aaron L Goldman, Michelle I Mighdoll, John A Cotoia, Anna C Brandtjen, JooHeon Shin, Thomas M Hyde, Venkata S Mattay, Daniel R Weinberger, Joel E Kleinman
Posttraumatic stress disorder (PTSD) follows exposure to a traumatic event in susceptible individuals. Recently, genome-wide association studies have identified a number of genetic sequence variants that are associated with the risk of developing PTSD. To follow up on identifying the molecular mechanisms of these risk variants, we performed genotype to RNA sequencing-derived quantitative expression (whole gene, exon, and exon junction levels) analysis in the dorsolateral prefrontal cortex (DLPFC) of normal postmortem human brains...
October 24, 2016: Journal of Neuroscience Research
Gorana G Stamenković, Valentina S Ćirković, Marina M Šiljić, Jelena V Blagojević, Aleksandra M Knežević, Ivana D Joksić, Maja P Stanojević
The aim of this study was to estimate substitution rate and imprints of natural selection on parvovirus B19 genotype 1. Studied datasets included 137 near complete coding B19 genomes (positions 665 to 4851) for phylogenetic and substitution rate analysis and 146 and 214 partial genomes for selection analyses in open reading frames ORF1 and ORF2, respectively, collected 1973-2012 and including 9 newly sequenced isolates from Serbia. Phylogenetic clustering assigned majority of studied isolates to G1A. Nucleotide substitution rate for total coding DNA was 1...
October 24, 2016: Scientific Reports
Tatiana V Tatarinova, Evgeny Chekalin, Yuri Nikolsky, Sergey Bruskin, Dmitry Chebotarov, Kenneth L McNally, Nickolai Alexandrov
We analyzed functionality and relative distribution of genetic variants across the complete Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset from the 3,000 Rice Genomes Project (, the largest and highest density SNP collection for any higher plant. We have shown that the DNA-binding transcription factors (TFs) are the most conserved group of genes, whereas kinases and membrane-localized transporters are the most variable ones. TFs may be conserved because they belong to some of the most connected regulatory hubs that modulate transcription of vast downstream gene networks, whereas signaling kinases and transporters need to adapt rapidly to changing environmental conditions...
October 24, 2016: Scientific Reports
Elena V Galitsyna, Margarita A Sazonova, Tatiana P Shkurat, Natalya A Demakova, Alexsandra A Melnichenko, Vasily V Sinyov, Anastasia I Ryzhkova, Konstantin Y Mitrofanov, Andrey V Zhelankin, Igor A Sobenin, Alexander N Orekhov
The present article considers chronic diseases of non-inflammatory genesis, the reasons of which may be mitochondrial dysfunctions. Among them are: coronary heart disease (CHD), hypertension, cardiomyopathy, cerebrovascular accidents and type 2 diabetes mellitus (T2D). Very often, in the long course of the disease, complications may occur, leading to myocardial infarction or ischemic stroke and as a result, death. The main cause of mitochondrial dysfunction are point mitochondrial genome mutations. During the analysis of the literature, data showing the association of the mitochondrial genome mutations with the above diseases were revealed...
October 18, 2016: Current Pharmaceutical Design
Sohee Oh, Iksoo Huh, Seung Yeoun Lee, Taesung Park
Most genome-wide association studies (GWAS) have been conducted by focusing on one phenotype of interest for identifying genetic variants associated with common complex phenotypes. However, despite many successful results from GWAS, only a small number of genetic variants tend to be identified and replicated given a very stringent genome-wide significance criterion, and explain only a small fraction of phenotype heritability. In order to improve power by using more information from data, we propose an alternative multivariate approach, which considers multiple related phenotypes simultaneously...
September 9, 2016: Journal of Bioinformatics and Computational Biology
Kenji Amemiya, Yosuke Hirotsu, Taichiro Goto, Hiroshi Nakagomi, Hitoshi Mochizuki, Toshio Oyama, Masao Omata
Identifying genetic alterations in tumors is critical for molecular targeting of therapy. In the clinical setting, formalin-fixed paraffin-embedded (FFPE) tissue is usually employed for genetic analysis. However, DNA extracted from FFPE tissue is often not suitable for analysis because of its low levels and poor quality. Additionally, FFPE sample preparation is time-consuming. To provide early treatment for cancer patients, a more rapid and robust method is required for precision medicine. We present a simple method for genetic analysis, called touch imprint cytology combined with massively paralleled sequencing (touch imprint cytology [TIC]-seq), to detect somatic mutations in tumors...
October 24, 2016: Cancer Medicine
Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira
1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates correlation between loss of heterozygosity of 1p36 and tumor development, and the existence of tumor suppressors in this region. Therefore, it was suspected that patients with 1p36 deletion syndrome have a higher risk of tumor development; however, only a few child cases of neuroblastoma with 1p36 deletion syndrome have been reported...
October 24, 2016: American Journal of Medical Genetics. Part A
Zhongfeng Li, Lingxue Jiang, Yansong Ma, Zhongyan Wei, Huilong Hong, Zhangxiong Liu, Jinhui Lei, Ying Liu, Rongxia Guan, Yong Guo, Longguo Jin, Lijuan Zhang, Yinghui Li, Yulong Ren, Wei He, Ming Liu, Nang Myint Phyu Sin Htwe, Lin Liu, Bingfu Guo, Jian Song, Bing Tan, Guifeng Liu, Maiquan Li, Xianli Zhang, Bo Liu, Xuehui Shi, Sining Han, Sunan Hua, Fulai Zhou, Lili Yu, Yanfei Li, Shuang Wang, Jun Wang, Ruzhen Chang, Lijuan Qiu
Mutagenized populations have provided important materials for introducing variation and identifying gene function in plants. In this study, an ethyl methanesulfonate (EMS) -induced soybean (Glycine max) population, consisting of 21,600 independent M2 lines, was developed. Over one thousand M4 (5) families, with diverse abnormal phenotypes for seed composition, seed shape, plant morphology, and maturity that are stably expressed across different environments and generations were identified. Phenotypic analysis of the population led to the identification of a yellow pigmentation mutant, gyl, that displayed significantly decreased chlorophyll (Chl) content and abnormal chloroplast development...
October 24, 2016: Journal of Integrative Plant Biology
Jinhu Huang, Jiale Ma, Kexin Shang, Xiao Hu, Yuan Liang, Daiwei Li, Zuowei Wu, Lei Dai, Li Chen, Liping Wang
Streptococcus suis is a previously neglected, newly emerging multidrug-resistant zoonotic pathogen. Mobile genetic elements (MGEs) play a key role in intra- and interspecies horizontal transfer of antimicrobial resistance (AMR) determinants. Although, previous studies showed the presence of several MGEs, a comprehensive analysis of AMR-associated mobilome as well as their interaction and evolution has not been performed. In this study, we presented the AMR-associated mobilome and their insertion hotspots in S...
2016: Frontiers in Cellular and Infection Microbiology
Eileen N Oni, Ronald P Hart
Several recent publications sought to investigate the effects of ethanol treatment on models of central nervous system development, specifically through changes in DNA methylation. Regulation of DNA methylation causes a long-lasting, epigenetic change in the capacity of the genome to respond to developmental or metabolic stimuli. Changes in technologies for quantifying DNA methylation have increased the ability to identify and interpret potential effects of ethanol. Here, we review these recent studies in order to evaluate the detection technologies and bioinformatic analyses...
October 2016: Current Pharmacology Reports
Filip Bielejec, Guy Baele, Allen G Rodrigo, Marc A Suchard, Philippe Lemey
Various factors determine the rate at which mutations are generated and fixed in viral genomes. Viral evolutionary rates may vary over the course of a single persistent infection and can reflect changes in replication rates and selective dynamics. Dedicated statistical inference approaches are required to understand how the complex interplay of these processes shapes the genetic diversity and divergence in viral populations. Although evolutionary models accommodating a high degree of complexity can now be formalized, adequately informing these models by potentially sparse data, and assessing the association of the resulting estimates with external predictors, remains a major challenge...
July 2016: Virus Evolution
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