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Medical genomics

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https://www.readbyqxmd.com/read/28231575/individual-biomarkers-using-molecular-personalized-medicine-approaches
#1
Hans P Zenner
Molecular personalized medicine tries to generate individual predictive biomarkers to assist doctors in their decision making. These are thought to improve the efficacy and lower the toxicity of a treatment. The molecular basis of the desired high-precision prediction is modern "omex" technologies providing high-throughput bioanalytical methods. These include genomics and epigenomics, transcriptomics, proteomics, metabolomics, microbiomics, imaging, and functional analyses. In most cases, producing big data also requires a complex biomathematical analysis...
February 24, 2017: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://www.readbyqxmd.com/read/28229978/untranslated-regions-of-mrna-and-their-role-in-regulation-of-gene-expression-in-protozoan-parasites
#2
Shilpa J Rao, Sangeeta Chatterjee, Jayantapal K Pal
Protozoan parasites are one of the oldest living entities in this world that throughout their existence have shown excellent resilience to the odds of survival and have adapted beautifully to ever changing rigors of the environment. In view of the dynamic environment encountered by them throughout their life cycle, and in establishing pathogenesis, it is unsurprising that modulation of gene expression plays a fundamental role in their survival. In higher eukaryotes, untranslated regions (UTRs) of transcripts are one of the crucial regulators of gene expression (influencing mRNA stability and translation efficiency)...
March 2017: Journal of Biosciences
https://www.readbyqxmd.com/read/28229460/phenome-wide-association-studies-a-new-method-for-functional-genomics-in-humans
#3
Dan M Roden
In experimental physiology research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences. The development of DNA biobanks linked to dense phenotypic information enables such an experiment to be applied to human subjects in form of a phenome-wide association study (PheWAS). The PheWAS paradigm takes advantage of a curated medical phenome, often derived from electronic health records, to search for associations between "input functions" and phenotypes in an unbiased fashion...
February 23, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28228588/investigation-of-the-role-of-protein-kinase-d-in-human-rhinovirus-replication
#4
Anabel Guedán, Dawid Swieboda, Mark Charles, Marie Toussaint, Sebastian L Johnston, Amin Asfor, Anusha Panjwani, Tobias J Tuthill, Henry Danahay, Tony Raynham, Aurelie Mousnier, Roberto Solari
Picornavirus replication is known to cause extensive remodelling of Golgi and endoplasmic reticulum membranes and a number of the host proteins involved in the viral replication complex have been identified, including oxysterol binding protein (OSBP) and phosphatidylinositol 4-kinase III beta (PI4KB). Since both OSBP and PI4KB are substrates for protein kinase D (PKD) and PKD is known to be involved in the control of Golgi vesicular and lipid transport, we hypothesised that PKD played a role in viral replication...
February 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28226421/opening-plenary-speaker-human-genomics-precision-medicine-and-advancing-human-health
#5
Eric D Green
Starting with the launch of the Human Genome Project in 1990, the past quarter-century has brought spectacular achievements in genomics that dramatically empower the study of human biology and disease. The human genomics enterprise is now in the midst of an important transition, as the growing foundation of genomic knowledge is being used by researchers and clinicians to tackle increasingly complex problems in biomedicine. Of particular prominence is the use of revolutionary new DNA sequencing technologies for generating prodigious amounts of DNA sequence data to elucidate the complexities of genome structure, function, and evolution, as well as to unravel the genomic bases of rare and common diseases...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224083/comparative-genomic-analysis-of-eutherian-kallikrein-genes
#6
Marko Premzl
The present study made attempts to update and revise eutherian kallikrein genes implicated in major physiological and pathological processes and in medical molecular diagnostics. Using eutherian comparative genomic analysis protocol and free available genomic sequence assemblies, the tests of reliability of eutherian public genomic sequences annotated most comprehensive curated third party data gene data set of eutherian kallikrein genes including 121 complete coding sequences among 335 potential coding sequences...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28222127/unusual-pattern-of-chikungunya-virus-epidemic-in-the-americas-the-panamanian-experience
#7
Jean-Paul Carrera, Yamilka Díaz, Bernardino Denis, Itza Barahona de Mosca, Dennys Rodriguez, Israel Cedeño, Dimelza Arauz, Publio González, Lizbeth Cerezo, Lourdes Moreno, Lourdes García, Lisseth E Sáenz, María Aneth Atencio, Eddy Rojas-Fermin, Fernando Vizcaino, Nicolas Perez, Brechla Moreno, Sandra López-Vergès, Anayansi Valderrama, Blas Armién
BACKGROUND: Chikungunya virus (CHIKV) typically causes explosive epidemics of fever, rash and polyarthralgia after its introduction into naïve populations. Since its introduction in Panama in May of 2014, few autochthonous cases have been reported; most of them were found within limited outbreaks in Panama City in 2014 and Puerto Obaldia town, near the Caribbean border with Colombia in 2015. In order to confirm that Panama had few CHIKV cases compared with neighboring countries, we perform an epidemiological analysis of chikungunya cases reported from May 2014 to July 2015...
February 21, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28222112/genome-wide-study-of-resistant-hypertension-identified-from-electronic-health-records
#8
Logan Dumitrescu, Marylyn D Ritchie, Joshua C Denny, Nihal M El Rouby, Caitrin W McDonough, Yuki Bradford, Andrea H Ramirez, Suzette J Bielinski, Melissa A Basford, High Seng Chai, Peggy Peissig, David Carrell, Jyotishman Pathak, Luke V Rasmussen, Xiaoming Wang, Jennifer A Pacheco, Abel N Kho, M Geoffrey Hayes, Martha Matsumoto, Maureen E Smith, Rongling Li, Rhonda M Cooper-DeHoff, Iftikhar J Kullo, Christopher G Chute, Rex L Chisholm, Gail P Jarvik, Eric B Larson, David Carey, Catherine A McCarty, Marc S Williams, Dan M Roden, Erwin Bottinger, Julie A Johnson, Mariza de Andrade, Dana C Crawford
Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes. Despite the important health consequences of resistant hypertension, few studies of resistant hypertension have been conducted. To perform a genome-wide association study for resistant hypertension, we defined and identified cases of resistant hypertension and hypertensives with treated, controlled hypertension among >47,500 adults residing in the US linked to electronic health records (EHRs) and genotyped as part of the electronic MEdical Records & GEnomics (eMERGE) Network...
2017: PloS One
https://www.readbyqxmd.com/read/28219735/complete-genome-sequence-of-leuconostoc-garlicum-kccm-43211-producing-exopolysaccharide
#9
Sang Pil Hong, Seung Chul Shin, Woo-Kyung Kang, Young-Wook Chin, Timothy L Turner, Hyun Wook Choi, Kyung Mo Song, Hyo Jin Kim
Leuconostoc garlicum KCCM 43211 isolated from traditional Korean fermented food is an intensive producer of exopolysaccharide (EPS). Here we report the first complete genome sequence of L. garlicum KCCM 43211. The genome sequence displayed that this strain contains genes involved in production of EPS possibly composed of glucose monomers. An uncharacterized EPS from the L. garlicum KCCM 43211 strains was also produced during fermentation in the sucrose medium. The MALDI-TOF results displayed the typical mass spectrometry pattern of dextran...
February 17, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28219279/the-medicalization-of-health-and-shared-responsibility
#10
Gianmarco Contino
Public, occupational and environmental health are relatively novel disciplines compared to the ancient history of medicine. Their development, together with a more insightful knowledge of the human pathophysiology (this more usual term is the one used in the article itself), have progressively expanded the field of investigation of medicine to environmental, behavioural and genetic factors that favour the development of certain medical conditions. As a result we have developed numerous additional strategies to monitor health and prevent disease, including interventions in anticipation of diseases themselves when patients are still healthy or in a grey area of increased risk...
April 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28215692/developing-a-puncture-free-in-ovo-chicken-transfection-strategy-based-on-bypassing-albumen-nucleases
#11
Hamid-Reza Amini, Abbas Pakdel, Hossein Moradi Shahr-Babak, Shahin Eghbalsaied
Chicken is a dual-purpose animal important from both agricultural and medical aspects. Even though significant improvements have been made in chicken transgenesis technologies, chicken genome manipulation has not been widely used in developmental biology. This study was aimed to evaluate chicken egg white nuclease properties and thereof plausibility of devising an in vivo transfection technology without causing physical damage to the embryo. First, the nuclease activity of egg albumen was assessed. The egg white nucleases were strongly active in degrading DNA and RNA...
March 15, 2017: Theriogenology
https://www.readbyqxmd.com/read/28213480/a-common-genetic-variant-risk-score-is-associated-with-drug-induced-qt-prolongation-and-torsade-de-pointes-risk-a-pilot-study
#12
David G Strauss, Jose Vicente, Lars Johannesen, Ksenia Blinova, Jay W Mason, Peter Weeke, Elijah R Behr, Dan M Roden, Raymond Woosley, Gulum Kosova, Michael A Rosenberg, Christopher Newton-Cheh
Background -Drug-induced QT interval prolongation, a risk factor for life-threatening ventricular arrhythmias, is a potential side effect of many marketed and withdrawn medications. The contribution of common genetic variants previously associated with baseline QT interval to drug-induced QT prolongation and arrhythmias is not known. Methods -We tested the hypothesis that a weighted combination of common genetic variants contributing to QT interval at baseline, identified through genome-wide association studies, can predict individual response to multiple QT-prolonging drugs...
February 17, 2017: Circulation
https://www.readbyqxmd.com/read/28212969/lessons-learned-when-introducing-pharmacogenomic-panel-testing-into-clinical-practice
#13
Marc B Rosenman, Brian Decker, Kenneth D Levy, Ann M Holmes, Victoria M Pratt, Michael T Eadon
OBJECTIVES: Implementing new programs to support precision medicine in clinical settings is a complex endeavor. We describe challenges and potential solutions based on the Indiana GENomics Implementation: an Opportunity for the Underserved (INGenious) program at Eskenazi Health-one of six sites supported by the Implementing GeNomics In pracTicE network grant of the National Institutes of Health/National Human Genome Research Institute. INGenious is an implementation of a panel of genomic tests...
January 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28212402/graph-gpa-a-graphical-model-for-prioritizing-gwas-results-and-investigating-pleiotropic-architecture
#14
Dongjun Chung, Hang J Kim, Hongyu Zhao
Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. However, identification of risk variants associated with complex diseases remains challenging as they are often affected by many genetic variants with small or moderate effects. There has been accumulating evidence suggesting that different complex traits share common risk basis, namely pleiotropy...
February 17, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28211978/american-college-of-medical-genetics-and-genomics-updates-secondary-findings-guidelines-revision-adds-new-genes-to-testing-list-outlines-standardized-process-for-including-variants-on-list
#15
(no author information available yet)
No abstract text is available yet for this article.
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210784/novel-aids-therapies-based-on-gene-editing
#16
REVIEW
Kamel Khalili, Martyn K White, Jeffrey M Jacobson
HIV/AIDS remains a major public health issue. In 2014, it was estimated that 36.9 million people are living with HIV worldwide, including 2.6 million children. Since the advent of combination antiretroviral therapy (cART), in the 1990s, treatment has been so successful that in many parts of the world, HIV has become a chronic condition in which progression to AIDS has become increasingly rare. However, while people with HIV can expect to live a normal life span with cART, lifelong medication is required and cardiovascular, renal, liver, and neurologic diseases are still possible, which continues to prompt research for a cure for HIV...
February 16, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28209900/dna-damage-is-a-pervasive-cause-of-sequencing-errors-directly-confounding-variant-identification
#17
Lixin Chen, Pingfang Liu, Thomas C Evans, Laurence M Ettwiller
Mutations in somatic cells generate a heterogeneous genomic population and may result in serious medical conditions. Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies. Here, we show that mutagenic damage accounts for the majority of the erroneous identification of variants with low to moderate (1 to 5%) frequency. More important, we found signatures of damage in most sequencing data sets in widely used resources, including the 1000 Genomes Project and The Cancer Genome Atlas, establishing damage as a pervasive cause of sequencing errors...
February 17, 2017: Science
https://www.readbyqxmd.com/read/28204845/mirnas-target-databases-developmental-methods-and-target-identification-techniques-with-functional-annotations
#18
REVIEW
Nagendra Kumar Singh
PURPOSE: microRNA (miRNA) regulates diverse biological mechanisms and metabolisms in plants and animals. Thus, the discoveries of miRNA has revolutionized the life sciences and medical research.The miRNA represses and cleaves the targeted mRNA by binding perfect or near perfect or imperfect complementary base pairs by RNA-induced silencing complex (RISC) formation during biogenesis process. One miRNA interacts with one or more mRNA genes and vice versa, hence takes part in causing various diseases...
February 15, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28203683/identification-of-unique-venous-thromboembolism-susceptibility-variants-in-african-americans
#19
John A Heit, Sebastian M Armasu, Bryan M McCauley, Iftikhar J Kullo, Hugues Sicotte, Jyotishman Pathak, Christopher G Chute, Omri Gottesman, Erwin P Bottinger, Joshua C Denny, Dan M Roden, Rongling Li, Marylyn D Ritchie, Mariza de Andrade
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype...
February 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28198932/eugenics-sterilization-and-historical-memory-in-the-united-states
#20
Alexandra Minna Stern
From the 1920s to the 1950s, California sterilized approximately 20,000 people in state homes and hospitals based on a eugenic law that authorized medical superintendents to perform reproductive surgeries on patients deemed unfit and "suffering from a mental affliction likely to be inherited." Working with a unique resource - a dataset created from 19,000 sterilization recommendations - my team and I have reconstructed patterns and experiences of institutionalization of sterilizations. This article presents several of our important initial findings related to ethnic and gender bias in sterilization policies, and reflects on the relevance of the history for contemporary issues in genomics and social justice...
December 2016: História, Ciências, Saúde—Manguinhos
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