Results 1 to 10 of about 916,807 (296)

Whole Genome Sequencing in Pharmacogenomics [PDF]

Frontiers in Pharmacology, 2015
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George P Patrinos, Theodora eKatsila
doaj   +3 more sources

Whole genome sequencing of elite athletes

Biology of Sport, 2020
Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes.
Eugenia A. Boulygina, Oleg V. Borisov, Elena V. Valeeva, Ekaterina A. Semenova, Elena S Kostryukova, Nikolay A. Kulemin, Andrey K. Larin, Roza M. Nabiullina, Fanis A. Mavliev, Azat M. Akhatov, Oleg N. Andryushchenko, Liliya B. Andryushchenko, Piotr Zmijewski, Edward V. Generozov, Ildus I Ahmetov   +14 more
doaj   +3 more sources

PennCNV in whole-genome sequencing data [PDF]

BMC Bioinformatics, 2017
Background The use of high-throughput sequencing data has improved the results of genomic analysis due to the resolution of mapping algorithms. Although several tools for copy-number variation calling in whole genome sequencing have been published, the ...
Leandro de Araújo Lima, Kai Wang
doaj   +3 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   +3 more sources

Whole-genome sequencing [PDF]

Practical Neurology, 2021
The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential ...
Huw R Morris, Henry Houlden, James Polke
openaire   +4 more sources

Whole genome sequencing in acute myeloid leukemia [PDF]

Haematologica
Torsten Haferlach
doaj   +2 more sources

Marching toward 100% whole genome sequencing [PDF]

Frontiers in Genetics, 2016
Yih-Horng eShiao
doaj   +3 more sources

Whole Genome Sequencing in Cancer Clinics

EBioMedicine, 2015
Patients with a family history of cancer are being evaluated with single-gene or gene panel tests (LaDuca et al., 2014). The decreasing cost and potential to provide comprehensive genetic risk assessment makes whole genome sequencing (WGS) an attractive tool for understanding the genetic risk for cancer (Collins and Hamburg, 2013).
Ken Chen, Funda Meric-Bernstam
doaj   +3 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

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