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Incidental and secondary findings in trio exome sequencing

Genes & Diseases 2024年第4期11卷 152-154页

作者： camille cohen Emeline Bellanger Jeremie Mortreux Laure Raymond Francois Vialard Rodolphe Dard Department of Genetics Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-LayePoissy 78300France RHuMA UMR-BREEDINRA-ENVA-UVSQMontigny le Bretonneux 78180France Service de Genetique Laboratoire Eurofins BiomnisLyon 69007France

Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary findings(ISFs)is higher in routine clinical practice because of(i)the use of trio ES instead of solo sequencing and(i)the exclusion of the incidental findings(IFs)of medical value concerning genes in the ACMG ***,it is not clear how sufficient is a restricted list of genes to detect every ISF of major clinical value;and what is the amount of additional workload for the laboratory.

关键词： routine clinical finding

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Is breast conservative surgery a reasonable option in multifocal or multicentric tumors?

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World Journal of Clinical Oncology 2016年第2期7卷 234-242页

作者： Gilles Houvenaeghel Agnès Tallet Aurélie Jalaguier-Coudray Monique cohen Marie Bannier camille Jauffret-Fara Eric Lambaudie Institut Paoli Calmettes and CRCM Aix Marseille Université

The incidence of multifocal(MF) and multicentric(MC) carcinomas varies widely among clinical studies,depending on definitions and methods for pathological *** resonance imaging is increasingly used because it can help identify additional and conventionally occult tumors with high ***,false positive lesions might incorrectly influence treatment ***,preoperative biopsies must be performed to avoid unnecessary *** studies have shown higher lymph node involvement rates in MF/MC tumors than in unifocal ***,the rate of local recurrences is usually low after breast conservative treatment(BCT) of MC/MF *** has been suggested that BCT is a reasonable option for MC/MF tumors in women aged 50-69 years,with small tumors and absence of extensive ductal carcinoma in situ.A metaanalysis showed an apparent decreased overall survival in MC/MF tumors but data are *** should achieve both acceptable cosmetic results and negative margins,which requires thorough preoperative radiological workup and localization of *** radiotherapy techniques must be evaluated since double boosts might result in increased toxicity,namely *** conclusion,BCT is feasible in selected patients with MC/MF but the choice of surgery must be discussed in a multidisciplinary team comprising at least radiologists,surgeons and radiotherapists.

关键词： Mastectomy Breast conservative surgery Multifocal tumors Multicentric tumors Radiotherapy Local recurrence Breast cancer Survival

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Direct Retrieval of NO_(2)Vertical Columns from UV-Vis(390-495nm)Spectral Radiances Using a Neural Network

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Journal of Remote Sensing 2022年第1期2022卷 200-216页

作者： Chi Li Xiaoguang Xu Xiong Liu Jun Wang Kang Sun Jos van Geffen Qindan Zhu Jianzhong Ma Junli Jin Kai Qin Qin He Pinhua Xie Bo Ren Ronald C.cohen Department of Chemistry University of CaliforniaBerkeleyBerkeleyCAUSA Joint Center for Earth Systems Technology University of MarylandBaltimore CountyBaltimoreMAUSA Department of Chemical and Biochemical Engineering Center for Global and Regional Environmental ResearchAnd Informatics InitiativeThe University of IowaIowa CityIAUSA Harvard-Smithsonian Center for Astrophysics CambridgeMAUSA Department of Civil Structural and Environmental EngineeringUniversity at BuffaloBuffaloNYUSA Research and Education in Energy Environment and Water InstituteUniversity at BuffaloBuffaloNYUSA Satellite Observations Department Royal Netherlands Meteorological Institute(KNMI)De BiltNetherlands Department of Earth and Planetary Science University of CaliforniaBerkeleyBerkeleyCAUSA Chinese Academy of Meteorology Science China Meteorological AdministrationBeijingChina Meteorological Observation Center China Meteorological AdministrationBeijingChina School of Environment and Spatial Informatics China University of Mining and TechnologyXuzhouChina Key Laboratory of Environmental Optics and Technology Anhui Institute of Optics and Fine MechanicsHefei Institutes of Physical ScienceChinese Academy of SciencesHefeiChina

Satellite retrievals of columnar nitrogen dioxide(NO_(2))are essential for the characterization of nitrogen oxides(NO_(x))processes and *** requirements of modeled a priori profiles present an outstanding bottleneck in operational satellite NO_(2)*** this work,we instead use neural network(NN)models trained from over 360,000 radiative transfer(RT)simulations to translate satellite radiances across 390-495nm to total NO_(2)vertical column(NO_(2)C).Despite the wide variability of the many input parameters in the RT simulations,only a small number of key variables were found essential to the accurate prediction of NO_(2)C,including observing angles,surface reflectivity and altitude,and several key principal component scores of the *** addition to the NO_(2)C,the NN training and cross-validation experiments show that the wider retrieval window allows some information about the vertical distribution to be retrieved(e.g.,extending the rightmost wavelength from 465 to 495 nm decreases the root-mean-square-error by 0.75%)under high-NO_(2)C *** to four months of TROPOMI data,the trained NN model shows strong ability to reproduce the NO_(2)C observed by the ground-based Pandonia Global *** coefficient of determination(R2,0.75)and normalized mean bias(NMB,-33%)are competitive with the level 2 operational TROPOMI product(R^(2)=0:77,NMB=−29%)over clear(geometric cloud fraction<0:2)and polluted(NO_(2)C≥7:5×10^(15)molecules/cm2)*** NN retrieval approach is~12 times faster than predictions using high spatial resolution(~3 km)a priori profiles from chemical transport modeling,which is especially attractive to the handling of large volume satellite data.

关键词： Vertical attractive faster

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