Results 1 to 10 of about 1,170,509 (350)

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease [PDF]

JAMA pediatrics, 2021
Key Points Question What is the effect of whole-genome sequencing (WGS) on clinical management in a diverse population of acutely ill infants? Findings In this randomized time-delayed clinical trial conducted at 5 children’s hospitals, a diverse ...
Ian D. Krantz, Līvija Medne, Jamila Weatherly, K. Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen Fishler, Omar Abdul‐Rahman, Joshua C. Euteneuer, Denise M. Hoover, David Dimmock, John P. Cleary, Lauge Farnaes, Jason Knight, Adam J. Schwarz, Ofelia Vargas-Shiraishi, Kristin Wigby, Neda Zadeh, Marwan Shinawi, Jennifer Wambach, Dustin Baldridge, F. Sessions Cole, Daniel Wegner, Nora Urraca, Shannon Holtrop, Roya Mostafavi, Henry J. Mroczkowski, Enikö K. Pivnick, Jewell C. Ward, Ajay J. Talati, Chester Brown, John W. Belmont, Julia Ortega, Keisha Robinson, W. Tyler Brocklehurst, Denise Perry, Subramanian S. Ajay, R. Tanner Hagelstrom, Maren Bennett, Vani Rajan, Ryan J. Taft   +42 more
openalex   +2 more sources

Whole genome sequencing in clinical practice

BMC Medical Genomics
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers.
Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen   +6 more
doaj   +2 more sources

Sparse whole-genome sequencing identifies two loci for major depressive disorder. [PDF]

Nature, 2015
Major depressive disorder (MDD), one of the most frequently encountered forms of mental illness and a leading cause of disability worldwide, poses a major challenge to genetic analysis.
CONVERGE consortium
core   +3 more sources

Typing methods based on whole genome sequencing data

One Health Outlook, 2020
Whole genome sequencing (WGS) of foodborne pathogens has become an effective method for investigating the information contained in the genome sequence of bacterial pathogens.
Laura Uelze, Josephine Grützke, Maria Borowiak, Jens Andre Hammerl, Katharina Juraschek, Carlus Deneke, Simon H. Tausch, Burkhard Malorny   +7 more
doaj   +2 more sources

Whole-genome sequencing for every newborn in the UK: promise and practicalities. [PDF]

EClinicalMedicine
eClinicalMedicine.
europepmc   +2 more sources

Whole genome sequencing to characterize the molecular epidemiology and drug-resistance of tuberculosis in Huzhou, China. [PDF]

BMC Genomics
Ji L, Ren F, Xu D, Zhu X, Tong Z, Shen J, Zhang P.   +6 more
europepmc   +3 more sources

Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]

, 2015
Plasmodium knowlesi is a newly described zoonosis that causes malaria in the human population that can be severe and fatal. The study of P. knowlesi parasites from human clinical isolates is relatively new and, in order to obtain maximum information from
A Conesa, A Ecker, A Pain, A Sinha, AR Quinlan, B Langmead, B Singh, B Singh, C Aurrecoechea, C Daneshvar, C Hertz-Fowler, CJ Sutherland, EV Meyer, FA Fatih, H Li, I Kozarewa, J Cox-Singh, J Cox-Singh, Janet Cox-Singh, JB Koenderink, JC Barrett, JC Barrett, JC de Roode, JC Rayner, Julian C. Rayner, K Rutherford, KS Lee, L Mamanova, LH Miller, LH Miller, M Ashburner, M Rougemont, M Yuda, MA Ahmed, Md Atique Ahmed, Miguel M. Pinheiro, Osamu Kaneko, P Jones, P Librado, PC Divis, PM Jones, R Leinonen, R Tanizaki, R Tripathi, S Iwanaga, S Purcell, Sanjeev Krishna, Scott B. Millar, SE Lindner, SO Oyola, SW Roy, T Carver, T William, TC Yeo, Theo Sanderson, Thomas D. Otto, U Bronner, Woon Chan Lu, YL Lau   +58 more
core   +17 more sources

SARS-CoV-2 surveillance in Italy through phylogenomic inferences based on Hamming distances derived from pan-SNPs, -MNPs and -InDels

BMC Genomics, 2021
Background Faced with the ongoing global pandemic of coronavirus disease, the ‘National Reference Centre for Whole Genome Sequencing of microbial pathogens: database and bioinformatic analysis’ (GENPAT) formally established at the ‘Istituto ...
Adriano Di Pasquale, Nicolas Radomski, Iolanda Mangone, Paolo Calistri, Alessio Lorusso, Cesare Cammà   +5 more
doaj   +1 more source

Whole-genome sequencing of half-a-million UK Biobank participants

medRxiv, 2023
Whole-genome sequencing (WGS) provides a comprehensive view of the genome, enabling detection of coding and non-coding genetic variation, and surveying complex regions which are difficult to genotype. Here, we report on whole-genome sequencing of 490,640
The UK Biobank Whole-Genome Sequencing Consortium, S. Li, K. Carss, B. Halldórsson, A. Cortes   +4 more
semanticscholar   +1 more source

Harmonization of supervised machine learning practices for efficient source attribution of Listeria monocytogenes based on genomic data

BMC Genomics, 2023
Background Genomic data-based machine learning tools are promising for real-time surveillance activities performing source attribution of foodborne bacteria such as Listeria monocytogenes.
Pierluigi Castelli, Andrea De Ruvo, Andrea Bucciacchio, Nicola D’Alterio, Cesare Cammà, Adriano Di Pasquale, Nicolas Radomski   +6 more
doaj   +1 more source