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Kitty?K. Lo Evangelia Karampetsou Christopher Boustred Fiona McKay Sarah Mason Melissa Hill Vincent Plagnol Lyn?S. Chitty 《American journal of human genetics》2016,98(1):34-44
The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a calling pipeline based on a segmentation algorithm for the detection of these rearrangements in maternal plasma. The same read depth used in our standard pipeline for aneuploidy NIPT detected 15/18 (83%) samples with pathogenic rearrangements > 6 Mb but only 2/10 samples with rearrangements < 6 Mb, unless they were maternally inherited. There were two false-positive calls in 534 samples with no known subchromosomal abnormalities (specificity 99.6%). Using higher read depths, we detected 29/31 fetal subchromosomal abnormalities, including the three samples with maternally inherited microduplications. We conclude that test sensitivity is a function of the fetal fraction, read depth, and size of the fetal CNV and that at least one of the two false negatives is due to a low fetal fraction. The lack of an independent method for determining fetal fraction, especially for female fetuses, leads to uncertainty in test sensitivity, which currently has implications for this technique’s future as a clinical diagnostic test. Furthermore, to be effective, NIPT must be able to detect chromosomal rearrangements across the whole genome for a very low false-positive rate. Because standard NIPT can only detect the majority of larger (>6 Mb) chromosomal rearrangements and requires knowledge of fetal fraction, we consider that it is not yet ready for routine clinical implementation. 相似文献
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Martin Surbeck Christophe Boesch Catherine Crockford Melissa Emery Thompson Takeshi Furuichi Barbara Fruth Gottfried Hohmann Shintaro Ishizuka Zarin Machanda Martin N. Muller Anne Pusey Tetsuya Sakamaki Nahoko Tokuyama Kara Walker Richard Wrangham Emily Wroblewski Klaus Zuberbühler Linda Vigilant Kevin Langergraber 《Current biology : CB》2019,29(10):R354-R355
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Valcilaine T. Barbosa Joyelanne K. C. Souza Valter Alvino Mario R. Meneghetti Pedro P. Florez-Rodriguez Rui E. Moreira Gustavo V. B. Paulino Melissa F. Landell Irinaldo D. Basílio-Júnior Ticiano G. do Nascimento Luciano A. M. Grillo Camila B. Dornelas 《Biotechnology progress》2019,35(6):e2888
Biological methods have been used to synthesize silver nanoparticles through materials such as bacteria, fungi, plants, and propolis due to their reducing properties, stabilizer role and environmentally friendly characteristic. Considering the antimicrobial activity of propolis as well as the broad-spectrum antibacterial effects of silver nanoparticles, this study aim to describe the use of Brazilian propolis to synthesize silver nanoparticles (AgNP-P) and investigate its antimicrobial activity. The synthesis was optimized by factorial design, choosing the best conditions for smaller size particles. AgNP-P demonstrated a maximum absorbance at 412 nm in ultraviolet-visible spectra, which indicated a spherical format and its formation. Dynamic light scattering demonstrated a hydrodynamic size of 109 nm and polydispersity index less than 0.3, showing a good size distribution and stability. After its purification via centrifugation, microscopy analysis corroborates the format and showed the presence of propolis around silver nanoparticle. X-ray diffraction peaks were attributed to the main planes of the metallic silver crystalline structure; meanwhile infrared spectroscopy demonstrated the main groups responsible for silver reduction, represented by ∼22% of AgNP-P indicates by thermal analysis. Our product revealed an important antimicrobial activity indicating a synergism between propolis and silver nanoparticles as expected and promising to be an effective antimicrobial product to be used in infections. 相似文献
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