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https://www.readbyqxmd.com/read/28633496/clinical-sensitivity-and-specificity-of-the-check-points-check-direct-esbl-screen-for-bd-max-a-real-time-pcr-for-direct-esbl-detection-from-rectal-swabs
#1
Dennis Souverein, Sjoerd M Euser, Wil A van der Reijden, Bjorn L Herpers, Jan Kluytmans, John W A Rossen, Jeroen W Den Boer
Objectives: To determine the diagnostic accuracy of the Check-Direct ESBL Screen for BD MAX (ESBL qPCR) and an ESBL culture method to identify ESBLs directly from rectal swabs. Methods: Rectal swabs were obtained from clinical patients by performing cross-sectional (point)prevalence measurements in three regional hospitals. Rectal swabs were analysed by direct culture (ChromID ESBL agar) and with the ESBL qPCR. Suspected ESBL-producing isolates were confirmed with the combination disc method and analysed by WGS...
June 19, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28632283/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#2
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28627467/time-to-review-the-gold-standard-for-genotyping-vancomycin-resistant-enterococci-in-epidemiology-comparing-whole-genome-sequencing-with-pfge-and-mlst-in-three-suspected-outbreaks-in-sweden-during-2013-2015
#3
Birgitta Lytsy, Lars Engstrand, Åke Gustafsson, Rene Kaden
Vancomycin-resistant enterococci (VRE) are a challenge to the health-care system regarding transmission rate and treatment of infections. VRE outbreaks have to be controlled from the first cases which means that appropriate and sensitive genotyping methods are needed. The aim of this study was to investigate the applicability of whole genome sequencing based analysis compared to Pulsed-Field Gel Electrophoresis (PFGE) and Multi-Locus Sequence Typing (MLST) in epidemiological investigations as well as the development of a user friendly method for daily laboratory use...
June 13, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28622368/minimal-genetic-change-in-vibrio-cholerae-in-mozambique-over-time-multilocus-variable-number-tandem-repeat-analysis-and-whole-genome-sequencing
#4
Marcelino Garrine, Inácio Mandomando, Delfino Vubil, Tacilta Nhampossa, Sozinho Acacio, Shan Li, Joseph N Paulson, Mathieu Almeida, Daryl Domman, Nicholas R Thomson, Pedro Alonso, Oscar Colin Stine
Although cholera is a major public health concern in Mozambique, its transmission patterns remain unknown. We surveyed the genetic relatedness of 75 Vibrio cholerae isolates from patients at Manhiça District Hospital between 2002-2012 and 3 isolates from river using multilocus variable-number tandem-repeat analysis (MLVA) and whole genome sequencing (WGS). MLVA revealed 22 genotypes in two clonal complexes and four unrelated genotypes. WGS revealed i) the presence of recombination, ii) 67 isolates descended monophyletically from a single source connected to Wave 3 of the Seventh Pandemic, and iii) four clinical isolates lacking the cholera toxin gene...
June 16, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28619007/whole-genome-sequencing-analyses-of-listeria-monocytogenes-that-persisted-in-a-milkshake-machine-for-a-year-and-caused-illnesses-in-washington-state
#5
Zhen Li, Ailyn Pérez-Osorio, Yu Wang, Kaye Eckmann, William A Glover, Marc W Allard, Eric W Brown, Yi Chen
BACKGROUND: In 2015, in addition to a United States multistate outbreak linked to contaminated ice cream, another outbreak linked to ice cream was reported in the Pacific Northwest of the United States. It was a hospital-acquired outbreak linked to milkshakes, made from contaminated ice cream mixes and milkshake maker, served to patients. Here we performed multiple analyses on isolates associated with this outbreak: pulsed-field gel electrophoresis (PFGE), whole genome single nucleotide polymorphism (SNP) analysis, species-specific core genome multilocus sequence typing (cgMLST), lineage-specific cgMLST and whole genome-specific MLST (wgsMLST)/outbreak-specific cgMLST...
June 15, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28617419/utilization-of-genomic-sequencing-for-population-screening-of-immunodeficiencies-in-the-newborn
#6
Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber, Benjamin D Solomon
PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data from a cohort of 1,349 newborn-parent trios by genotype-first and phenotype-first approaches. For the genotype-first approach, we analyzed predicted protein-impacting variants in 329 immunodeficiency-related genes in the WGS data...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28615687/multi-drug-resistant-klebsiella-pneumoniae-strains-circulating-in-hospital-setting-whole-genome-sequencing-and-bayesian-phylogenetic-analysis-for-outbreak-investigations
#7
Eleonora Cella, Massimo Ciccozzi, Alessandra Lo Presti, Marta Fogolari, Taj Azarian, Mattia Prosperi, Marco Salemi, Michele Equestre, Francesca Antonelli, Alessia Conti, Marina De Cesaris, Silvia Spoto, Raffaele Antonelli Incalzi, Roberto Coppola, Giordano Dicuonzo, Silvia Angeletti
Carbapenems resistant Enterobacteriaceae infections are increasing worldwide representing an emerging public health problem. The application of phylogenetic and phylodynamic analyses to bacterial whole genome sequencing (WGS) data have become essential in the epidemiological surveillance of multi-drug resistant nosocomial pathogens. Between January 2012 and February 2013, twenty-one multi-drug resistant K. pneumoniae strains, were collected from patients hospitalized among different wards of the University Hospital Campus Bio-Medico...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28614790/genomic-landscape-and-evolution-of-metastatic-chromophobe-renal-cell-carcinoma
#8
Jozefina Casuscelli, Nils Weinhold, Gunes Gundem, Lu Wang, Emily C Zabor, Esther Drill, Patricia I Wang, Gouri J Nanjangud, Almedina Redzematovic, Amrita M Nargund, Brandon J Manley, Maria E Arcila, Nicholas M Donin, John C Cheville, R Houston Thompson, Allan J Pantuck, Paul Russo, Emily H Cheng, William Lee, Satish K Tickoo, Irina Ostrovnaya, Chad J Creighton, Elli Papaemmanuil, Venkatraman E Seshan, A Ari Hakimi, James J Hsieh
Chromophobe renal cell carcinoma (chRCC) typically shows ~7 chromosome losses (1, 2, 6, 10, 13, 17, and 21) and ~31 exonic somatic mutations, yet carries ~5%-10% metastatic incidence. Since extensive chromosomal losses can generate proteotoxic stress and compromise cellular proliferation, it is intriguing how chRCC, a tumor with extensive chromosome losses and a low number of somatic mutations, can develop lethal metastases. Genomic features distinguishing metastatic from nonmetastatic chRCC are unknown. An integrated approach, including whole-genome sequencing (WGS), targeted ultradeep cancer gene sequencing, and chromosome analyses (FACETS, OncoScan, and FISH), was performed on 79 chRCC patients including 38 metastatic (M-chRCC) cases...
June 15, 2017: JCI Insight
https://www.readbyqxmd.com/read/28610794/molecular-mechanisms-of-action-resistance-detection-to-the-first-line-anti-tuberculosis-drugs-rifampicin-and-pyrazinamide-in-the-post-whole-genome-sequencing-era
#9
REVIEW
Ameeruddin Nusrath Unissa, Luke Elizabeth Hanna
Recent studies in addition to studies based on whole genome sequencing (WGS) of clinical isolates of Mycobacterium tuberculosis (MTB) from diverse geographical regions have provided useful insights into the mechanisms of drug resistance. Of importance, are some of the findings pertaining to mechanisms of resistance to two of the first-line anti-tuberculosis (TB) drugs, namely, rifampicin (RIF) and pyrazinamide (PZA). For example, the implication of mutations in rpoA and rpoC genes that act as compensatory mutations for those in the rpoB gene with respect to RIF resistance is noteworthy...
July 2017: Tuberculosis
https://www.readbyqxmd.com/read/28605515/fri-2-carbapenemase-producing-enterobacter-cloacae-complex-in-the-uk
#10
Danièle Meunier, Jacqueline Findlay, Michel Doumith, Daniel Godoy, Claire Perry, Rachel Pike, Firza Gronthoud, Theresa Shryane, Laurent Poirel, William Welfare, Neil Woodford, Katie L Hopkins
Objectives: Detection of rarer carbapenemases is challenging, as it requires molecular assays with comprehensive coverage or the use of phenotypic methods for the detection of carbapenemase activity. We describe a new class A carbapenemase, FRI-2, in an Enterobacter cloacae complex isolate following implementation of an in-house multiplex PCR for the detection of 'rare' class A carbapenemases. Methods: MICs were determined by agar dilution. A carbapenem-resistant E...
June 10, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28602946/whole-genome-analysis-reveals-unexpected-dynamics-of-mutant-subclone-development-in-a-patient-with-jak2-v617f-positive-chronic-myeloid-leukemia
#11
I Sloma, M Mitjavila-Garcia, O Feraud, F Griscelli, N Oudrhiri, S El Marsafy, E Gobbo, D Divers, A Proust, D M Smadja, C Desterke, A Carles, Y Ma, M Hirst, M A Marra, C J Eaves, A Bennaceur-Griscelli, A G Turhan
We report here the first use of whole genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML) who presented in chronic phase (CP) with doubly marked BCR-ABL1(+)/JAK2(V617F)-mutant cells and over a 9 year period progressed into an accelerated phase (AP) and then terminal blast phase (BP). WGS showed the diagnostic cells also contained mutations in ASXL1, SEC23B, MAD1L1 and RREB1, as well as 12,000 additional uncommon DNA variants. WGS of endothelial cells generated from circulating precursors revealed many of these were shared with the CML clone...
June 7, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28599915/multiplex-polymerase-chain-reaction-for-identification-of-escherichia-coli-escherichia-albertii-and-escherichia-fergusonii
#12
Rebecca L Lindsey, L Garcia-Toledo, D Fasulo, L M Gladney, N Strockbine
Escherichia coli, Escherichia albertii, and Escherichia fergusonii are closely related bacteria that can cause illness in humans, such as bacteremia, urinary tract infections and diarrhea. Current identification strategies for these three species vary in complexity and typically rely on the use of multiple phenotypic and genetic tests. To facilitate their rapid identification, we developed a multiplex PCR assay targeting conserved, species-specific genes. We used the Daydreamer™ (Pattern Genomics, USA) software platform to concurrently analyze whole genome sequence assemblies (WGS) from 150 Enterobacteriaceae genomes (107 E...
June 6, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28595277/genetic-alterations-responsible-for-reduced-susceptibility-to-vancomycin-in-community-associated-mrsa-strains-of-st72
#13
Jin Yang Baek, Doo Ryeon Chung, Kwan Soo Ko, So Hyun Kim, Soo-Jin Yang, Cheol-In Kang, Kyong Ran Peck, Jae-Hoon Song
Objectives: We previously reported the first case of vancomycin treatment failure due to development of vancomycin-intermediate resistance in a patient with an MRSA of ST72, a community genotype in Korea. We investigated two isogenic MRSA strains from this patient, who experienced treatment failure with vancomycin and rifampicin. Methods: We tracked the genetic alterations that confer reduced susceptibility to vancomycin on those two isogenic MRSA strains by WGS...
June 7, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28594829/mendel-md-a-user-friendly-open-source-web-tool-for-analyzing-wes-and-wgs-in-the-diagnosis-of-patients-with-mendelian-disorders
#14
Raony G C C L Cardenas, Natália D Linhares, Raquel L Ferreira, Sérgio D J Pena
Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new software called Mendel,MD, which combines multiple types of filter options and makes use of regularly updated databases to facilitate exome and genome annotation, the filtering process and the selection of candidate genes and variants for experimental validation and possible diagnosis...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28592550/validation-and-implementation-of-clinical-laboratory-improvements-act-clia-compliant-whole-genome-sequencing-in-public-health-microbiology-laboratory
#15
Varvara K Kozyreva, Chau-Linda Truong, Alexander L Greninger, John Crandall, Rituparna Mukhopadhyay, Vishnu Chaturvedi
Public health microbiology laboratories (PHL) are on the cusp of unprecedented improvements in pathogen identification, antibiotic resistance detection, and outbreak investigation by using whole genome sequencing (WGS). However, considerable challenges remain due to the lack of common standards. Herein, we describe the validation of WGS on Illumina platform for routine use in PHL according to the Clinical Laboratory Improvements Act (CLIA) guidelines for the laboratory developed tests (LDTs). We developed a validation panel comprising ten Enterobacteriaceae isolates, five Gram-positive cocci, five Gram-negative non-fermenting species, nine Mycobacterium tuberculosis, and five miscellaneous bacteria...
June 7, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28592545/development-of-a-web-tool-for-escherichia-coli-sub-typing-based-on-fimh-alleles
#16
Louise Roer, Veronika Tchesnokova, Rosa Allesøe, Mariya Muradova, Sujay Chattopadhyay, Johanne Ahrenfeldt, Martin C F Thomsen, Ole Lund, Frank Hansen, Anette M Hammerum, Evgeni Sokurenko, Henrik Hasman
The aim of this study was to construct a valid publicly available method for in silico fimH sub-typing of Escherichia coli particularly suitable for differentiation of fine-resolution subgroups within clonal groups defined by standard multi-locus sequence typing (MLST). FimTyper was constructed as a FASTA database containing all currently known fimH alleles. The software source code is publicly available on https://bitbucket.org/genomicepidemiology/fimtyper, the database freely available at https://bitbucket...
June 7, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28591819/comparison-of-phenotypic-and-wgs-derived-antimicrobial-resistance-profiles-of-shigella-sonnei-isolated-from-cases-of-diarrhoeal-disease-in-england-and-wales-2015
#17
Zahra Sadouki, Martin R Day, Michel Doumith, Marie A Chattaway, Timothy J Dallman, Katie L Hopkins, Richard Elson, Neil Woodford, Gauri Godbole, Claire Jenkins
Objectives: Phenotypic and genotypic methods for the detection of antimicrobial resistance (AMR) in Shigella sonnei in England and Wales were compared and evaluated. Methods: WGS data from 341 isolates of S. sonnei isolated between June 2015 and January 2016 were mapped to genes known to be associated with phenotypic AMR. Antimicrobial susceptibility testing was performed on all viable isolates (n = 335). Results: Fifteen of 335 isolates had a discrepancy between phenotypic and genotypic testing for 1 of the 10 antimicrobial classes tested, equating to 15 (0...
June 7, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28590251/a-primer-on-infectious-disease-bacterial-genomics
#18
REVIEW
Tarah Lynch, Aaron Petkau, Natalie Knox, Morag Graham, Gary Van Domselaar
The number of large-scale genomics projects is increasing due to the availability of affordable high-throughput sequencing (HTS) technologies. The use of HTS for bacterial infectious disease research is attractive because one whole-genome sequencing (WGS) run can replace multiple assays for bacterial typing, molecular epidemiology investigations, and more in-depth pathogenomic studies. The computational resources and bioinformatics expertise required to accommodate and analyze the large amounts of data pose new challenges for researchers embarking on genomics projects for the first time...
October 2016: Clinical Microbiology Reviews
https://www.readbyqxmd.com/read/28589856/association-analysis-of-rare-variants-near-the-apoe-region-with-csf-and-neuroimaging-biomarkers-of-alzheimer-s-disease
#19
Kwangsik Nho, Sungeun Kim, Emrin Horgusluoglu, Shannon L Risacher, Li Shen, Dokyoon Kim, Seunggeun Lee, Tatiana Foroud, Leslie M Shaw, John Q Trojanowski, Paul S Aisen, Ronald C Petersen, Clifford R Jack, Michael W Weiner, Robert C Green, Arthur W Toga, Andrew J Saykin
BACKGROUND: The APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer's disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in the region remain significant after adjusting for APOE genotype. We report a rare variant association analysis of genes in the vicinity of APOE with cerebrospinal fluid (CSF) and neuroimaging biomarkers of LOAD. METHODS: Whole genome sequencing (WGS) was performed on 817 blood DNA samples from the Alzheimer's Disease Neuroimaging Initiative (ADNI)...
May 24, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28589247/challenges-in-laboratory-detection-of-fungal-pathogens-in-the-airways-of-cystic-fibrosis-patients
#20
Sharon C-A Chen, Wieland Meyer, Catherine H Pashley
Study of the clinical significance of fungal colonization/infection in the airways of cystic fibrosis (CF) patients, especially by filamentous fungi, is challenged by the absence of standardized methodology for the detection and identification of an ever-broadening range of fungal pathogens. Culture-based methods remain the cornerstone diagnostic approaches, but current methods used in many clinical laboratories are insensitive and unstandardized, rendering comparative studies unfeasible. Guidelines for standardized processing of respiratory specimens and for their culture are urgently needed and should include recommendations for specific processing procedures, inoculum density, culture media, incubation temperature and duration of culture...
June 6, 2017: Mycopathologia
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