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Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

机译：表型驱动分析软件苯体作为临床遗传学家在临床遗传学中解释的诊断辅助临床疗效

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Fanny Thuriot; Caroline Buote; Elaine Gravel; Sébastien Chénier; Valérie Désilets; Bruno Maranda; Paula J Waters; Pierre-Etienne Jacques; Sébastien Lévesque;
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1. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data [J] . Thuriot Fanny, Buote Caroline, Gravel Elaine, Genetics in medicine . 2018,第9期

机译：表型驱动分析软件酚酚作为临床遗传学家解释的诊断辅助临床疗效
2. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation [J] . Ales Mayer, Luca Lovrecic, Marija Volk, Genetics in medicine . 2016,第11期

机译：表型驱动的基因靶标在临床全基因组测序数据解释中的定义
3. Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested [J] . Salmon Lina Basel, Orenstein Naama, Markus-Bustani Keren, Genetics in medicine . 2019,第6期

机译：通过临床遗传学家参与所测试的个人医疗保健的临床遗传学家，通过exome测序改善诊断
4. An automated method for analysis of gait data to aid clinical interpretation [C] . Myriam Abi Hayla, Salim Ghoussayni, David Ewins, 2011 1st Middle East Conference on Biomedical Engineering . 2011

机译：一种自动化的步态数据分析方法，可帮助临床解释
5. Database system extensions for functional brain image analysis, interpretation and classification: Aiding clinical diagnoses and cognitive research in psychiatry. [D] . Munch, Kristin Richardson. 2006

机译：用于功能性大脑图像分析，解释和分类的数据库系统扩展：帮助精神病学进行临床诊断和认知研究。
6. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes [O] . Yannis J Trakadis, Caroline Buote, Jean-François Therriault, 2014

机译：PhenoVar：表型驱动的临床基因组学方法用于诊断多畸形综合症
7. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation [O] . Maver Ales, Lovrecic Luca, Volk Marija, 2016

机译：临床基因组测序数据解释中的表型驱动基因靶定义

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

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