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https://www.readbyqxmd.com/read/28109609/economic-evaluation-of-progeny-testing-and-genomic-selection-schemes-for-small-sized-nucleus-dairy-cattle-breeding-programs-in-developing-countries
#1
C M Kariuki, E W Brascamp, H Komen, A K Kahi, J A M van Arendonk
In developing countries minimal and erratic performance and pedigree recording impede implementation of large-sized breeding programs. Small-sized nucleus programs offer an alternative but rely on their economic performance for their viability. We investigated the economic performance of 2 alternative small-sized dairy nucleus programs [i.e., progeny testing (PT) and genomic selection (GS)] over a 20-yr investment period. The nucleus was made up of 453 male and 360 female animals distributed in 8 non-overlapping age classes...
January 18, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28109597/weather-influences-feed-intake-and-feed-efficiency-in-a-temperate-climate
#2
Davina L Hill, Eileen Wall
A key goal for livestock science is to ensure that food production meets the needs of an increasing global population. Climate change may heighten this challenge through increases in mean temperatures and in the intensity, duration, and spatial distribution of extreme weather events, such as heat waves. Under high ambient temperatures, livestock are expected to decrease dry matter intake (DMI) to reduce their metabolic heat production. High yielding dairy cows require high DMI to support their levels of milk production, but this may increase susceptibility to heat stress...
January 18, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28107969/a-new-paper-based-analytical-device-for-detection-of-glucose-6-phosphate-dehydrogenase-deficiency
#3
Phuritat Kaewarsa, Wanida Laiwattanapaisal, Attakorn Palasuwan, Duangdao Palasuwan
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic haemolytic disorder. Most persons with G6PD deficiency are asymptomatic, but exposure to oxidant drugs, such as the anti-malarial drug primaquine, may induce haemolysis, which is commonly found in Asian countries. A reliable test is necessary for diagnosing the deficiency to prevent an acute haemolytic crisis. This study proposes a novel quantitative method to detect G6PD deficiency using paper-based analytical devices (G6PDD-PAD). Wax printing was utilized for fabricating circular reaction zone patterns in paper...
March 1, 2017: Talanta
https://www.readbyqxmd.com/read/28104618/hysa-a-hybrid-structural-variant-assembly-approach-using-next-generation-and-single-molecule-sequencing-technologies
#4
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
https://www.readbyqxmd.com/read/28103467/-investigation-of-genetic-etiology-in-neurodegenerative-dementias-recommendations-from-the-centro-hospitalar-s%C3%A3-o-jo%C3%A3-o-neurogenetics-group
#5
João Massano, Miguel Leão, Carolina Garrett
In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28102915/transgenerational-effects-alter-plant-defense-and-resistance-in-nature
#6
Jack Colicchio
Trichomes, or leaf hairs, are epidermal extensions that take a variety of forms and perform many functions in plants, including herbivore defense. In this study, I document genetically determined variation, within-generation plasticity, and a direct role of trichomes in herbivore defense for Mimulus guttatus. After establishing the relationship between trichomes and herbivory, I test for transgenerational effects of wounding on trichome density and herbivore resistance. Patterns of inter-annual variation in herbivore density and the high cost of plant defense makes plant-herbivore interactions a system in which transgenerational phenotypic plasticity (TPP) is apt to evolve...
January 19, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28101934/detection-of-neonatal-unit-clusters-of-candida-parapsilosis-fungaemia-by-microsatellite-genotyping-results-from-laboratory-based-sentinel-surveillance-south-africa-2009-2010
#7
Rindidzani E Magobo, Serisha D Naicker, Jeannette Wadula, Maphoshane Nchabeleng, Yacoob Coovadia, Anwar Hoosen, Shawn R Lockhart, Nelesh P Govender
Neonatal candidaemia is a common, deadly and costly hospital-associated disease. To determine the genetic diversity of Candida parapsilosis causing fungaemia in South African neonatal intensive care units (NICUs). From February 2009 through to August 2010, cases of candidaemia were reported through laboratory-based surveillance. C. parapsilosis isolates from neonatal cases were submitted for identification by internal transcribed spacer (ITS) region sequencing, antifungal susceptibility testing and microsatellite genotyping...
January 19, 2017: Mycoses
https://www.readbyqxmd.com/read/28100823/conspicuous-plumage-colours-are-highly-variable
#8
Kaspar Delhey, Beatrice Szecsenyi, Shinichi Nakagawa, Anne Peters
Elaborate ornamental traits are often under directional selection for greater elaboration, which in theory should deplete underlying genetic variation. Despite this, many ornamental traits appear to remain highly variable and how this essential variation is maintained is a key question in evolutionary biology. One way to address this question is to compare differences in intraspecific variability across different types of traits to determine whether high levels of variation are associated with specific trait characteristics...
January 25, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28099159/reducing-false-arrhythmia-alarm-rates-using-robust-heart-rate-estimation-and-cost-sensitive-support-vector-machines
#9
Qiang Zhang, Xianxiang Chen, Zhen Fang, Qingyuan Zhan, Ting Yang, Shanhong Xia
To lessen the rate of false critical arrhythmia alarms, we used robust heart rate estimation and cost-sensitive support vector machines. The PhysioNet MIMIC II database and the 2015 PhysioNet/CinC Challenge public database were used as the training dataset; the 2015 Challenge hidden dataset was for testing. Each record had an alarm labeled with asystole, extreme bradycardia, extreme tachycardia, ventricular tachycardia or ventricular flutter/fibrillation. Before alarm onsets, 300 s multimodal data was provided, including electrocardiogram, arterial blood pressure and/or photoplethysmogram...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28096933/the-association-of-male-pattern-baldness-and-risk-of-cancer-and-high-grade-disease-among-men-presenting-for-prostate-biopsy
#10
Ghazi Al Edwan, Bimal Bhindi, David Margel, Karen Chadwick, Antonio Finelli, Alexandre Zlotta, John Trachtenberg, Neil Fleshner
INTRODUCTION: Androgens have been implicated in both male pattern baldness (MPB) and prostate cancer (PCa). We set out to prospectively determine if men with independently assessed MPB are at higher risk for PCa at biopsy and determine if any grade associations exist. METHODS: We prospectively enrolled 394 eligible patients presenting for prostate biopsy and independently determined their MPB pattern using the validated modified Norwood classification system (0: no balding; 1: frontal balding; 2: mild vertex balding; 3: moderate vertex balding; 4: sever vertex balding)...
November 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28096286/diagnosis-of-primary-ciliary-dyskinesia-potential-options-for-resource-limited-countries
#11
REVIEW
Nisreen Rumman, Claire Jackson, Samuel Collins, Patricia Goggin, Janice Coles, Jane S Lucas
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28095776/genetic-and-economic-benefits-of-selection-based-on-performance-recording-and-genotyping-in-lower-tiers-of-multi-tiered-sheep-breeding-schemes
#12
Bruno F S Santos, Julius H J van der Werf, John P Gibson, Timothy J Byrne, Peter R Amer
BACKGROUND: Performance recording and genotyping in the multiplier tier of multi-tiered sheep breeding schemes could potentially reduce the difference in the average genetic merit between nucleus and commercial flocks, and create additional economic benefits for the breeding structure. METHODS: The genetic change in a multiple-trait breeding objective was predicted for various selection strategies that included performance recording, parentage testing and genomic selection...
January 17, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#13
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28092385/visual-detection-of-multiple-genetically-modified-organisms-in-a-capillary-array
#14
Ning Shao, Jianwei Chen, Jiaying Hu, Rong Li, Dabing Zhang, Shujuan Guo, Junhou Hui, Peng Liu, Litao Yang, Sheng-Ce Tao
There is an urgent need for rapid, low-cost multiplex methodologies for the monitoring of genetically modified organisms (GMOs). Here, we report a C[combining low line]apillary A[combining low line]rray-based L[combining low line]oop-mediated isothermal amplification for M[combining low line]ultiplex visual detection of nucleic acids (CALM) platform for the simple and rapid monitoring of GMOs. In CALM, loop-mediated isothermal amplification (LAMP) primer sets are pre-fixed to the inner surface of capillaries...
January 16, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#15
Marloes Visser, Dennis Dooijes, Jasper J van der Smagt, Jeroen F van der Heijden, Pieter A Doevendans, Peter Loh, Folkert W Asselbergs, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare primary cardiac arrhythmia syndrome that is diagnosed in a resuscitated cardiac arrest victim, with documented ventricular fibrillation, in whom no underlying cause is identified after comprehensive clinical evaluation. In some patients causative genetic mutations are detected which facilitate patient treatment and follow-up. The feasibility of next generation sequencing (NGS) has increased with its greater availability and decreasing costs...
January 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28081509/in-silico-prediction-of-toxicity-of-phenols-to-tetrahymena-pyriformis-by-using-genetic-algorithm-and-decision-tree-based-modeling-approach
#16
Fatemeh Abbasitabar, Vahid Zare-Shahabadi
Risk assessment of chemicals is an important issue in environmental protection; however, there is a huge lack of experimental data for a large number of end-points. The experimental determination of toxicity of chemicals involves high costs and time-consuming process. In silico tools such as quantitative structure-toxicity relationship (QSTR) models, which are constructed on the basis of computational molecular descriptors, can predict missing data for toxic end-points for existing or even not yet synthesized chemicals...
January 2, 2017: Chemosphere
https://www.readbyqxmd.com/read/28074474/optimal-defense-theory-explains-deviations-from-latitudinal-herbivory-defense-hypothesis
#17
Nicholas J Kooyers, Benjamin K Blackman, Liza M Holeski
The latitudinal herbivory defense hypothesis (LHDH) postulates that the prevalence of species interactions, including herbivory, is greater at lower latitudes, leading to selection for increased levels of plant defense. While latitudinal defense clines may be caused by spatial variation in herbivore pressure, optimal defense theory predicts that clines could also be caused by ecogeographic variation in the cost of defense. For instance, allocation of resources to defense may not increase plant fitness when growing seasons are short and plants must reproduce quickly...
January 10, 2017: Ecology
https://www.readbyqxmd.com/read/28068926/screening-of-wt1-mutations-in-exon-8-and-9-in-children-with-steroid-resistant-nephrotic-syndrome-from-a-single-centre-and-establishment-of-a-rapid-screening-assay-using-high-resolution-melting-analysis-in-a-clinical-setting
#18
Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan
BACKGROUND: Mutations in Wilm's tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 children with SRNS from a single centre. We standardized and validated High Resolution Melt (HRM) as a rapid and cost effective screening step to identify individuals with normal sequence and distinguish it from those with a potential mutation. Since only mutation positive samples identified by HRM will be further processed for sequencing it will help in reducing the sequencing burden and speed up the screening process...
January 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28068459/does-pharmacogenomic-testing-improve-clinical-outcomes-for-major-depressive-disorder-a-systematic-review-of-clinical-trials-and-cost-effectiveness-studies
#19
Joshua D Rosenblat, Yena Lee, Roger S McIntyre
OBJECTIVE: Pharmacogenomic testing has become scalable and available to the general public. Pharmacogenomics has shown promise for predicting antidepressant response and tolerability in the treatment of major depressive disorder (MDD). In theory, pharmacogenomics can improve clinical outcomes by guiding antidepressant selection and dosing. The current systematic review examines the extant literature to determine the impact of pharmacogenomic testing on clinical outcomes in MDD and assesses its cost-effectiveness...
January 3, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28065470/the-rare-variant-generalized-disequilibrium-test-for-association-analysis-of-nuclear-and-extended-pedigrees-with-application-to-alzheimer-disease-wgs-data
#20
Zongxiao He, Di Zhang, Alan E Renton, Biao Li, Linhai Zhao, Gao T Wang, Alison M Goate, Richard Mayeux, Suzanne M Leal
Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population-based designs. Moreover, some family-based designs are robust to confounding due to population admixture or substructure. We developed a RV extension of the generalized disequilibrium test (GDT) to analyze sequence data obtained from nuclear and extended families...
January 2, 2017: American Journal of Human Genetics
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