Avoiding the Technological Imperative: Criteria for Genetic Screening Programs
Abstract
1782 10139
Avoiding the Technological Imperative: Criteria for Genetic Screening Programsby
Abstract
Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...] 1782 10139 |
Carrier Screening for the Haemoglobinopathies: Past, Present and Futureby
Abstract
Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...] 2012 17493 |
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An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.Abstract
Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology 1352 7797 |
Mechanisms of Origin and Clinical Effects of Multiple Small Supernumerary Marker Chromosomes, Each Derived from a Different ChromosomeAbstract
Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...] 1611 10676 |
Paranitrophenol and Organic Azo Dye Degradation: Catalytic Power of Terminalia Leaf Silver NanoparticlesAbstract
Terminalia species is a widely available plant that can be used to synthesise silver nanoparticles (AgNPs) and harness their catalytic capacity. This experimental design will explore the potential of Terminalia AgNPs in contributing to the degradation process of toxic chemicals generated by industries such as textiles, food, and pharmaceuticals. This research uses four leaf varieties of Terminalia species—T. arjuna, T. bellirica, T. chebula, and T. catappa—to synthesize AgNPs, evaluate their optimal synthesis condi [...] 155 846 |
Fabrication of CuO-Decorated Fe2O3 Nanoparticles as Efficient and Durable Electrocatalyst for Oxygen Evolution Reactionby
Abstract
The electrochemical water oxidation application of CuO@Fe2O3 materials as potential catalysts is being reported for the first time. A series of CuO@Fe2O3 with different molar ratios of CuO (5, 7, 10, 12, and 15%) was fabricated through precipitation followed by the impregnation method. Structural and electrochemical studies were carried out by using different analytical platforms, including X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR), scanning electron microscopy (SEM), Energy dispersive [...] 295 1399 |
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