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Integrative genomics

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https://www.readbyqxmd.com/read/28109431/proteogenomics-recycling-public-data-to-improve-genome-annotations
#1
A McAfee, L J Foster
Massively parallel sequencing is revealing species genomes faster than ever before, but the value of the raw sequence is limited unless the genes can be accurately annotated. This is typically achieved using gene prediction algorithms which, despite continual improvement, still require substantial verification and refinement. For example, in silico methods struggle with annotating splice isoforms accurately and empirical methods are needed to refine and verify the initial bioinformatic gene predictions. RNA-seq is an excellent way to confirm exon-exon boundaries and transcript termini, while mass spectrometry (MS) offers definitive proof that a gene is translated and a secondary means of confirming exon expression, protein termini, and posttranslational modifications...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28109168/integrated-omics-analysis-of-specialized-metabolism-in-medicinal-plants
#2
Amit Rai, Kazuki Saito, Mami Yamazaki
Medicinal plants are the rich source of highly diverse specialized metabolites with important pharmacological properties. Until recently, plant biologists were limited in their approach to explore biosynthetic pathways of these metabolites, mainly due to the scarcity of plant genomics resources. Recent advancements in the high-throughput large-scale analytical methods have enabled plant biologists to discover biosynthetic pathways for important plant-based medicinal metabolites. Reduced cost to generate omics datasets, and the development of computational tools for their analysis and integration have led to the elucidation of biosynthetic pathways of several plant origin bio-active metabolites...
January 21, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28108662/coordination-between-the-polymerase-and-rnase-h-activity-of-hiv-1-reverse-transcriptase
#3
Małgorzata Figiel, Miroslav Krepl, Jarosław Poznański, Agnieszka Gołąb, Jiří Šponer, Marcin Nowotny
Replication of human immunodeficiency virus 1 (HIV-1) involves conversion of its single-stranded RNA genome to double-stranded DNA, which is integrated into the genome of the host. This conversion is catalyzed by reverse transcriptase (RT), which possesses DNA polymerase and RNase H domains. The available crystal structures suggest that at any given time the RNA/DNA substrate interacts with only one active site of the two domains of HIV-1 RT. Unknown is whether a simultaneous interaction of the substrate with polymerase and RNase H active sites is possible...
January 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28108661/a-structure-function-analysis-of-the-yeast-elg1-protein-reveals-the-importance-of-pcna-unloading-in-genome-stability-maintenance
#4
Keren Shemesh, Marek Sebesta, Martin Pacesa, Soumitra Sau, Alex Bronstein, Oren Parnas, Batia Liefshitz, Česlovas Venclovas, Lumir Krejci, Martin Kupiec
The sliding clamp, PCNA, plays a central role in DNA replication and repair. In the moving replication fork, PCNA is present at the leading strand and at each of the Okazaki fragments that are formed on the lagging strand. PCNA enhances the processivity of the replicative polymerases and provides a landing platform for other proteins and enzymes. The loading of the clamp onto DNA is performed by the Replication Factor C (RFC) complex, whereas its unloading can be carried out by an RFC-like complex containing Elg1...
January 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28108657/risearch2-suffix-array-based-large-scale-prediction-of-rna-rna-interactions-and-sirna-off-targets
#5
Ferhat Alkan, Anne Wenzel, Oana Palasca, Peter Kerpedjiev, Anders Frost Rudebeck, Peter F Stadler, Ivo L Hofacker, Jan Gorodkin
Intermolecular interactions of ncRNAs are at the core of gene regulation events, and identifying the full map of these interactions bears crucial importance for ncRNA functional studies. It is known that RNA-RNA interactions are built up by complementary base pairings between interacting RNAs and high level of complementarity between two RNA sequences is a powerful predictor of such interactions. Here, we present RIsearch2, a large-scale RNA-RNA interaction prediction tool that enables quick localization of potential near-complementary RNA-RNA interactions between given query and target sequences...
January 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28108556/confirmation-of-five-novel-susceptibility-loci-for-systemic-lupus-erythematosus-sle-and-integrated-network-analysis-of-82-sle-susceptibility-loci
#6
Julio E Molineros, Wanling Yang, Xu-Jie Zhou, Celi Sun, Yukinori Okada, Huoru Zhang, Kek Heng Chua, Yu-Lung Lau, Yuta Kochi, Akari Suzuki, Kazuhiko Yamamoto, Jianyang Ma, So-Young Bang, Hye-Soon Lee, Kwangwoo Kim, Sang-Cheol Bae, Hong Zhang, Nan Shen, Loren L Looger, Swapan K Nath
We recently identified ten novel SLE susceptibility loci in Asians and uncovered several additional suggestive loci requiring further validation. This study aimed to replicate five of these suggestive loci in a Han Chinese cohort from Hong Kong, followed by meta-analysis (11,656 cases and 23,968 controls) on previously reported Asian and European populations, and perform bioinformatic analyses on all 82 reported SLE loci to identify shared regulatory signatures. We performed a battery of analyses for these five loci, as well as joint analyses on all 82 SLE loci...
January 20, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28108451/gwar-robust-analysis-and-meta-analysis-of-genome-wide-association-studies
#7
Niki L Dimou, Konstantinos D Tsirigos, Arne Elofsson, Pantelis G Bagos
MOTIVATION: In the context of genome-wide association studies (GWAS), there is a variety of statistical techniques in order to conduct the analysis, but, in most cases, the underlying genetic model is usually unknown. Under these circumstances, the classical Cochran-Armitage trend test is suboptimal. Robust procedures that maximize the power and preserve the nominal type I error rate are preferable. Moreover, performing a meta-analysis using robust procedures is of great interest and has never been addressed in the past...
January 20, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28108274/the-crosstalk-between-wnt-%C3%AE-catenin-signaling-pathway-with-dna-damage-response-and-oxidative-stress-implications-in-cancer-therapy
#8
REVIEW
Ansar Karimaian, Maryam Majidinia, Hossein Bannazadeh Baghi, Bahman Yousefi
DNA repair is essential for maintaining genomic integrity in cells. The dependence of cancer cell survival on proper DNA repair provides an opportunity to treat defective tumors by DNA damaging agents. Not only Wnt signaling has important functions in controlling gene expression, as well as cell polarity, adhesion and behavior, it also highly interacts with DNA damage response (DDR) in different levels. Furthermore, oxidative stress, which is responsible for majority of DNA lesions, affects Wnt signaling in different ways...
January 11, 2017: DNA Repair
https://www.readbyqxmd.com/read/28107812/tissue-resolved-gene-structure-refined-equine-transcriptome
#9
T A Mansour, E Y Scott, C J Finno, R R Bellone, M J Mienaltowski, M C Penedo, P J Ross, S J Valberg, J D Murray, C T Brown
BACKGROUND: Transcriptome interpretation relies on a good-quality reference transcriptome for accurate quantification of gene expression as well as functional analysis of genetic variants. The current annotation of the horse genome lacks the specificity and sensitivity necessary to assess gene expression especially at the isoform level, and suffers from insufficient annotation of untranslated regions (UTR) usage. We built an annotation pipeline for horse and used it to integrate 1.9 billion reads from multiple RNA-seq data sets into a new refined transcriptome...
January 20, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28107514/karyopherin-alpha-proteins-regulate-oligodendrocyte-differentiation
#10
Benjamin M Laitman, John N Mariani, Chi Zhang, Setsu Sawai, Gareth R John
Proper regulation of the coordinated transcriptional program that drives oligodendrocyte (OL) differentiation is essential for central nervous system myelin formation and repair. Nuclear import, mediated in part by a group of karyopherin alpha (Kpna) proteins, regulates transcription factor access to the genome. Understanding how canonical nuclear import functions to control genomic access in OL differentiation may aid in the creation of novel therapeutics to stimulate myelination and remyelination. Here, we show that members of the Kpna family regulate OL differentiation, and may play distinct roles downstream of different pro-myelinating stimuli...
2017: PloS One
https://www.readbyqxmd.com/read/28107356/integrity-of-induced-pluripotent-stem-cell-ipsc-derived-megakaryocytes-as-assessed-by-genetic-and-transcriptomic-analysis
#11
Kai Kammers, Margaret A Taub, Ingo Ruczinski, Joshua Martin, Lisa R Yanek, Alyssa Frazee, Yongxing Gao, Dixie Hoyle, Nauder Faraday, Diane M Becker, Linzhao Cheng, Zack Z Wang, Jeff T Leek, Lewis C Becker, Rasika A Mathias
Previously, we have described our feeder-free, xeno-free approach to generate megakaryocytes (MKs) in culture from human induced pluripotent stem cells (iPSCs). Here, we focus specifically on the integrity of these MKs using: (1) genotype discordance between parent cell DNA to iPSC cell DNA and onward to the differentiated MK DNA; (2) genomic structural integrity using copy number variation (CNV); and (3) transcriptomic signatures of the derived MK lines compared to the iPSC lines. We detected a very low rate of genotype discordance; estimates were 0...
2017: PloS One
https://www.readbyqxmd.com/read/28107343/mutations-in-the-non-catalytic-subunit-dpb2-of-dna-polymerase-epsilon-affect-the-nrm1-branch-of-the-dna-replication-checkpoint
#12
Michał Dmowski, Justyna Rudzka, Judith L Campbell, Piotr Jonczyk, Iwona J Fijałkowska
To preserve genome integrity, the S-phase checkpoint senses damaged DNA or nucleotide depletion and when necessary, arrests replication progression and delays cell division. Previous studies, based on two pol2 mutants have suggested the involvement of DNA polymerase epsilon (Pol ε) in sensing DNA replication accuracy in Saccharomyces cerevisiae. Here we have studied the involvement of Pol ε in sensing proper progression of DNA replication, using a mutant in DPB2, the gene coding for a non-catalytic subunit of Pol ε...
January 20, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28106593/genetic-and-genomic-competencies-for-nursing-informatics-internationally
#13
Kathleen A Mc Cormick, Kathleen A Calzone
The majority of health professionals now have genetic and genomic competencies and some are measured by certification standards. Nursing has a proud history of defining roles for nursing in informatics and genetics. In addition, the nursing professional organization, the American Nurses Association, has a Certification Center that has successfully achieved ISO 9001:2008 certification in the design, development, and delivery of global credentialing services which encompasses certification of advanced practice nurses in genetics...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28106333/translating-precision
#14
EDITORIAL
Michael A Pacanowski
Precision medicine is based on a simple precept that deep information about an individual patient can be used to guide his or her health care. In the not-too-distant future, clinicians may have point-of-care access to an individual's entire genome, dense data captured from wearable devices, and informatics tools that aggregate data from clinical experience to allow for real-time decision support. The innovative technologies being developed in pursuit of precision medicine afford researchers and clinicians the opportunity to generate and consume information at an unprecedented scale...
January 20, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28105974/baseline-practices-for-the-application-of-genomic-data-supporting-regulatory-food-safety
#15
Dominic Lambert, Arthur Pightling, Emma Griffiths, Gary Van Domselaar, Peter Evans, Sharon Berthelet, Duncan Craig, P Scott Chandry, Robert Stones, Fiona Brinkman, Alexandre Angers-Loustau, Joachim Kreysa, Weida Tong, Burton Blais
The application of new data streams generated from next-generation sequencing (NGS) has been demonstrated for food microbiology, pathogen identification, and illness outbreak detection. The establishment of best practices for data integrity, reproducibility, and traceability will ensure reliable, auditable, and transparent processes underlying food microbiology risk management decisions. We outline general principles to guide the use of NGS data in support of microbiological food safety. Regulatory authorities across intra- and international jurisdictions can leverage this effort to promote the reliability, consistency, and transparency of processes used in the derivation of genomic information for regulatory food safety purposes, and to facilitate interactions and the transfer of information in the interest of public health...
January 19, 2017: Journal of AOAC International
https://www.readbyqxmd.com/read/28105921/simba-a-web-tool-for-managing-bacterial-genome-assembly-generated-by-ion-pgm-sequencing-technology
#16
Diego C B Mariano, Felipe L Pereira, Edgar L Aguiar, Letícia C Oliveira, Leandro Benevides, Luís C Guimarães, Edson L Folador, Thiago J Sousa, Preetam Ghosh, Debmalya Barh, Henrique C P Figueiredo, Artur Silva, Rommel T J Ramos, Vasco A C Azevedo
BACKGROUND: The evolution of Next-Generation Sequencing (NGS) has considerably reduced the cost per sequenced-base, allowing a significant rise of sequencing projects, mainly in prokaryotes. However, the range of available NGS platforms requires different strategies and software to correctly assemble genomes. Different strategies are necessary to properly complete an assembly project, in addition to the installation or modification of various software. This requires users to have significant expertise in these software and command line scripting experience on Unix platforms, besides possessing the basic expertise on methodologies and techniques for genome assembly...
December 15, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/28105916/gpcrs-from-fusarium-graminearum-detection-modeling-and-virtual-screening-the-search-for-new-routes-to-control-head-blight-disease
#17
Emmanuel Bresso, Roberto Togawa, Kim Hammond-Kosack, Martin Urban, Bernard Maigret, Natalia Florencio Martins
BACKGOUND: Fusarium graminearum (FG) is one of the major cereal infecting pathogens causing high economic losses worldwide and resulting in adverse effects on human and animal health. Therefore, the development of new fungicides against FG is an important issue to reduce cereal infection and economic impact. In the strategy for developing new fungicides, a critical step is the identification of new targets against which innovative chemicals weapons can be designed. As several G-protein coupled receptors (GPCRs) are implicated in signaling pathways critical for the fungi development and survival, such proteins could be valuable efficient targets to reduce Fusarium growth and therefore to prevent food contamination...
December 15, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/28105911/integrating-gene-set-analysis-and-nonlinear-predictive-modeling-of-disease-phenotypes-using-a-bayesian-multitask-formulation
#18
Mehmet Gönen
BACKGROUND: Identifying molecular signatures of disease phenotypes is studied using two mainstream approaches: (i) Predictive modeling methods such as linear classification and regression algorithms are used to find signatures predictive of phenotypes from genomic data, which may not be robust due to limited sample size or highly correlated nature of genomic data. (ii) Gene set analysis methods are used to find gene sets on which phenotypes are linearly dependent by bringing prior biological knowledge into the analysis, which may not capture more complex nonlinear dependencies...
December 13, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/28105701/climate-change-and-alpine-stream-biology-progress-challenges-and-opportunities-for-the-future
#19
Scott Hotaling, Debra S Finn, J Joseph Giersch, David W Weisrock, Dean Jacobsen
In alpine regions worldwide, climate change is dramatically altering ecosystems and affecting biodiversity in many ways. For streams, receding alpine glaciers and snowfields, paired with altered precipitation regimes, are driving shifts in hydrology, species distributions, basal resources, and threatening the very existence of some habitats and biota. Alpine streams harbour substantial species and genetic diversity due to significant habitat insularity and environmental heterogeneity. Climate change is expected to affect alpine stream biodiversity across many levels of biological resolution from micro- to macroscopic organisms and genes to communities...
January 20, 2017: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/28104618/hysa-a-hybrid-structural-variant-assembly-approach-using-next-generation-and-single-molecule-sequencing-technologies
#20
Xian Fan, Mark Chaisson, Luay Nakhleh, Ken Chen
Achieving complete, accurate and cost-effective assembly of human genomes is of great importance for realizing the promise of precision medicine. The abundance of repeats and genetic variations in human genomes and the limitations of existing sequencing technologies call for the development of novel assembly methods that can leverage the complementary strengths of multiple technologies. We propose a hybrid structural variant assembly (HySA) approach that integrates sequencing reads from next-generation sequencing and single-molecule sequencing technologies to accurately assemble and detect structural variations in human genomes...
January 19, 2017: Genome Research
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