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21.
Joe Shaw Elizabeth Scotchman Ben Paternoster Maureen Ramos Sarah Nesbitt Sophie Sheppard Tristan Snowsill Lyn S. Chitty Natalie Chandler 《黑龙江环境通报》2023,43(4):477-488
Objectives
To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.Methods
Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.Results
The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.Conclusions
ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail. 相似文献22.
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Aude Tessier Mélie Sarreau Fanny Pelluard Gwenaelle André Sophie Blesson Martine Bucourt Pierre Dechelotte Laurence Faivre Thierry Frébourg Alice Goldenberg Valérie Goua Corinne Jeanne-Pasquier Fabien Guimiot Annie Laquerriere Nicole Laurent Mathilde Lefebvre Philippe Loget Martine Maréchaud Charlotte Mechler Marie-Josée Perez Jean Christophe Sabourin Alain Verloes Sophie Patrier Anne-Marie Guerrot 《黑龙江环境通报》2016,36(13):1270-1275
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Use of otoliths and eye lenses for measuring trace-metal incorporation in fishes: a biogeographic study 总被引:1,自引:0,他引:1
The otoliths and lenses of the temperate damselfish Parma microlepis (Günther) (Pomacentridae) showed similar differences in trace-metal profile for selected locations along the coast of New
South Wales, Australia. Otoliths and lenses displayed a differential ability to accumulate metals. Metal concentrations were
ranked differently in the two structures (e.g. Sr > Ba > Pb > Rb > Hg in otoliths, and Hg > Sr ≃ Rb > Pb > Ba in lenses),
and where similar metals were accumulated, they were accumulated at vastly different concentrations (e.g. Ba concentrations
in otoliths are a thousand-fold greater than in lenses). Analyses of the otoliths and lenses of P. microlepis from locations close to Sydney and up to 100 km from the city were able to distinguish amongst these locations with respect
to a number of metals, namely Ba, Mn and Hg. Multivariate analyses of otolith and lens data gave similar results among locations
(agreement was obtained for 11 out of 15 pair-wise comparisons), and differences were attributable to the differential ability
of the two structures to accumulate metals such as Mn and Hg. Trace-metal differences between locations were found to coincide
with the proximity of sewage (including industrial waste) and petroleum storage facilities to the different locations.
Received: 23 June 1997 / Accepted: 4 August 1997 相似文献
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Kfoury Miriana Auezova Lizette Greige-Gerges Hélène Fourmentin Sophie 《Environmental Chemistry Letters》2019,17(1):129-143
Environmental Chemistry Letters - There is a growing interest for aromatic and biological properties of essential oils as alternatives to synthetic chemicals and drugs. However, essential oils and... 相似文献
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