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Start Over Descriptor "next generation sequencing" Publication Type Books
4 results on '"next generation sequencing"'

1. Recent Clinical Research on Glaucoma.

Author

Garcia-Medina, Jose Javier, Garcia-Medina, Jose Javier, and Pinazo-Duran, Maria Dolores

Subjects
Medicine, BDNF, BRVO, Corvis® ST, NTG, OCT, OCTA, Schlemm's canal incision, VEGF, acrobatic gymnastics, apoptosis, aqueous outflow, baseline intraocular pressure, biomarker, biomarkers, blood flow, central corneal thickness, cornea biomechanics, corneal biomechanics, corneal hysteresis, correlation, crocin, cytokines, deep learning, disc, fractalkine, function, genes, glaucoma, glaucoma suspect, hand balance, inflammation, inner, intraocular pressure, lamina cribrosa, macula, macular segmentation, mfVEP, miRNAs, microglia, microperimetry, multifocal visual evoked potentials, myopia, n/a, neurodegeneration, next generation sequencing, obesity, ocular biomarkers, ocular health, ocular hypertension, ocular inflammation, open-angle glaucoma, optic nerve, optical coherence tomography angiography, optical coherence tomography-angiography, outer, oxidative stress, perimetry, peripapillary, peripapillary vessel density, phenotype, physical exercise, polymorphism, retina, retinal glial cells, ripasudil, risk factor, saffron, signaling pathways, sport, structure, subclinical keratoconus, susceptibility, suture trabeculotomy ab interno, tears, tumbling skills, vascular density, vessel density, young adults
Abstract

Summary: In the past few years, knowledge about glaucoma diagnosis and follow up has evolved dramatically through advances in intraocular pressure (IOP) measurement, corneal biomechanics, structural and functional assessment of the ocular surface, anterior chamber, retina, optic nerve and intracranial visual pathways, as well as the advent of artificial intelligence. In addition, the development of new modalities of IOP-lowering and non-IOP-lowering drugs, alternative deliveries, refined laser technologies, and minimally invasive glaucoma surgery (MIGS) techniques with different implants have widened the therapeutic possibilities for treating this disease. Finally, current insights into risk factors and quality of life in relation to glaucomatous impairment are emerging. The purpose of this Special Issue is to present the latest exciting clinical developments that are taking place in the field of glaucoma.

2. Newborn Screening for Cystic Fibrosis.

Author

Barben, Jürg, Barben, Jürg, and Southern, Kevin

Subjects
Medicine, CF screen positive, CF transmembrane conductance regulator-related metabolic syndrome, CFSPID, DNA, DNA analysis, biochemical screening, bioethics, cost, cystic fibrosis, cystic fibrosis screen positive, diagnosis, dried blood spot, extended genetic analysis, health policy, immunoreactive trypsin, immunoreactive trypsin(ogen), immunoreactive trypsinogen, incidence, inconclusive diagnosis, inconclusive diagnosis (CFSPID), malnutrition, meconium ileus, missed case, n/a, newborn bloodspot screening, newborn screen, newborn screening, next generation sequencing, pancreatitis associated protein, parental information, presumptive diagnosis, prognosis, psychological impact, radioimmunoassay, sensitivity, sweat test, target disorder, therapy
Abstract

Summary: The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast to a clinical diagnosis, infants are now referred for diagnostic testing after a positive NBS result. The introduction of NBS has enabled the provision of early appropriate treatment to prevent the manifestations of the disease. In the near future, early diagnosis will facilitate the prompt use of new CFTR modulator therapies that correct the basic underlying molecular defect. NBS for CF has been a global success but continues to raise questions with many varied approaches and the development of new technologies, in particular the ability to undertake extensive gene examination. Which is the best protocol to achieve high sensitivity and specificity, and how to evaluate and manage infants with inconclusive diagnosis are all subjects of ongoing discussion. It is also open to question: what is the best approach to informing and counselling the parents about a positive or inconclusive NBS result? These questions are not easy to answer and require a balanced solution that reflects the local health care system and may appropriately result in different answers around the globe. The articles in this book try to answer these questions and give an overview of the current state of knowledge in NBS for CF.

3. Perspectives on Genetics and Genomics of the Brassicaceae.

Author

Schmidt, Renate and Bancroft, Ian

Abstract

The Arabidopsis thaliana genome project laid the foundation for the advancement of structural and functional genomics in this species which resulted in an ever-increasing understanding of a multitude of processes at the molecular level. Ongoing progress in high-throughput genome sequencing technologies will now allow for a boost of genome sequencing activities in various Brassicaceae species, accessions, and even populations. Such studies will provide unique insights into the evolution of plant genomes and may ultimately advance breeding of the Brassica crops. The development of genome-wide transcriptome analyses in Brassicaceae species other than A. thaliana will also heavily depend on the rapid advancement of cost-effective high-throughput sequencing technologies. Important contributions to fields as diverse as developmental biology, evolutionary biology, population genetics, plant physiology, and ecology can be expected since genetically tractable Brassicaceae species that are particularly suitable for the study of a specific trait and/or adaptation are currently developed as additional model systems. [ABSTRACT FROM AUTHOR]

Published
2011
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4. Bioinformatics Resources for the Brassica Species.

Author

Trick, Martin

Abstract

The science of Brassica genomics is now at an exciting stage with capillary-based BAC-by-BAC sequencing of the Brassica rapa gene-space, combined with the application of next generation sequencing technologies, opening up new possibilities to relate genome-wide variation to traits with unprecedented resolution and cost-effectiveness. We are at the real beginnings of the translation of the fundamental discoveries being made every day in the Arabidopsis model system to a group of closely related crop genomes of global economic importance. It is imperative that the appropriate bioinformatics resources to allow navigation between these genomes and also an integration of the emerging B. rapa genome sequence with the genetic maps that underpin trait analysis are put in place. In this chapter the current status and future prospects for these bioinformatics infrastructures will be discussed. [ABSTRACT FROM AUTHOR]

Published
2011
Full Text
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