机译:通过全外显子组捕获和大规模平行DNA测序进行遗传诊断
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Keck Foundation for Biotechnology Resources, Yale University School of Medicine, New Haven, CT 06510;
Keck Foundation for Biotechnology Resources, Yale University School of Medicine, New Haven, CT 06510;
Department of Pediatric Nephrology, Istanbul Medical Faculty, Istanbul 34390, Turkey;
Department of Pediatric Nephrology and Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey;
Department of Pediatric Nephrology and Rheumatology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey;
American University of Beirut, Beirut 11072020, Lebanon;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
Keck Foundation for Biotechnology Resources, Yale University School of Medicine, New Haven, CT 06510;
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510;
bartter syndrome; congenital chloride diarrhea; next-generation sequencing; whole-exome sequencing; personal genomes;
机译:针对性捕获和12个人类外显子组的大规模并行测序
机译:全面的大规模并行DNA测序策略用于神经-心-皮肤-皮肤综合征的遗传诊断
机译:下一代大规模平行测序的目标外显子组,以鉴定原发性睫状运动障碍的基因突变:在临床测试中的应用意义。
机译:用于大规模和异质DNA测序读段的装箱的Poisson-Markov混合模型和并行算法
机译:母体血浆靶向大规模并行测序的非侵入性产前诊断。
机译:通过全外显子组捕获和大规模平行DNA测序进行遗传诊断
机译:通过全外显子组捕获和大规模平行DNA测序进行遗传诊断