Results 1 to 10 of about 872,322 (251)
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
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Whole genome sequencing in pharmacogenomics [PDF]
Frontiers in Pharmacology, 2015 Pharmacogenomics aims to shed light on the role of genes and genomic variants in clinical treatment response. Although, several drug-gene relationships are characterized to date, many challenges still remain toward the application of pharmacogenomics in the clinic; clinical guidelines for pharmacogenomic testing are still in their infancy, whereas the ...
Theodora Katsila, George P. Patrinos
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Whole-Genome Sequencing in Cancer [PDF]
Cold Spring Harbor Perspectives in Medicine, 2018 Genome sequencing of cancer has fundamentally advanced our understanding of the underlying biology of this disease, and more recently has provided approaches to characterize and monitor tumors in the clinic, guiding and evaluating treatment. Although cancer research is relying more on whole-genome characterization, the clinical application of genomics ...
Eric Y, Zhao +2 more
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Human Whole-Genome Shotgun Sequencing [PDF]
Genome Research, 1997 Large-scale sequencing of the human genome is now under way (Boguski et al. 1996; Marshall and Pennisi 1996). Although at the beginning of the Genome Project, many doubted the scientific value of sequencing the entire human genome, these doubts have evaporated almost entirely (Gibbs 1995; Olson 1995).
J L, Weber, E W, Myers
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Whole-Genome Sequencing Redefines Shewanella Taxonomy [PDF]
Frontiers in Microbiology, 2019 The genus Shewanella encompasses a diverse group of Gram negative, primarily aquatic bacteria with a remarkable ecological relevance, an outstanding set of metabolic features and an emergent clinical importance. The rapid expansion of the genus over the 2000 s has prompted questions on the real taxonomic position of some isolates and species.
Thorell, Kaisa +3 more
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, 2023 Virilizer (Vir), first isolated from Drosophila melanogaster, plays a role in sex determination. In humans, its homologue and METTL3 are involved in N6-adenosine methylation (m6A) writing. As m6A of mRNA is an important process in most eukaryotes, it is very important to understand its role and the status of factors accompanying this modification ...
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Future of whole genome sequencing [PDF]
Journal of Paediatrics and Child Health, 2014 The era of genomic medicine, anticipated since the completion of the Human Genome Project in 2003, is now upon us. Before long, genomic information will be an integral part of the medical record, and paediatricians will be able to interrogate these data for a range of purposes: to make a diagnosis in a sick child, to diagnose or exclude a rare genetic ...
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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
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Whole‐Genome Sequencing of Yeast Cells
Current Protocols in Molecular Biology, 2019 AbstractThe budding yeast, Saccharomyces cerevisiae, has been widely used for genetic studies of fundamental cellular functions. The isolation and analysis of yeast mutants is a commonly used and powerful technique to identify the genes that are involved in a process of interest.
Rajaraman, Gopalakrishnan, Fred, Winston
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Whole genome sequencing in clinical practice
BMC Medical GenomicsAbstractWhole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for sequential genetic testing.
Frederik Otzen Bagger +6 more
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