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OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis

机译：OC06.01：单一基因，基因面板和外壳测序在结构异常胎儿中，具有正常的染色体微阵列分析

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A. Borrell; M. Pauta; A. Nadal; G. Arca; F. Paz; Y. Miño; M. Segura; E. Marimón; S. Pina; A. Tubau; C. Badenas;
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1. Whole‐Exome Sequencing and Chromosomal Microarray Analysis Feasible and Cost‐Effective in an Underserved Population: Whole‐exome sequencing and chromosomal microarray analysis are more expensive up front but are far more effective in making a genetic diagnosis and much less costly [J] . American journal of medical genetics, Part A . 2018,第5期

机译：全面的序列和染色体微阵列分析可行且具有成本效益在不道德的人群中：全外序列测序和染色体微阵列分析更昂贵，但在制作遗传诊断和更低的昂贵方面更有效
2. Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings [J] . Jason Steffener, Efstratios Assimakopoulos, Yaakov Stern, Clinical Case Reports . 2017,第3期

机译：通过新颖的靶向外显子组测序策略提供的与X连锁肌病相关的VMA21基因突变的产前诊断，适用于超声结果异常的胎儿
3. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray [J] . Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita Clinics and Practice . 2016,第3期

机译：使用单核苷酸多态性微阵列的高分辨率分析进行产前诊断结构性染色体异常的遗传咨询
4. The Basic Statistical Methods Applied to Microarrays Genes Expression Analysis [C] . D. Komorowski, E. Tkacz International Special Topic Conference on Information Technology and Applications in Biomedicine . 2008

机译：应用于微阵列基因表达分析的基本统计方法
5. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings [O] . Christopher Konialis, Efstratios Assimakopoulos, Birgitta Hagnefelt, 2017

机译：通过新颖的靶向外显子组测序策略提供的X连锁肌病与VMA21基因突变相关的产前诊断适用于超声结果异常的胎儿
7. 104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray [O] . Huda B. Al-kouatly, Thierry Vilboux, Melissa H. Fries, 2016

机译：104：产前全exome测序鉴定了正常核型和正常微阵列胎儿中先天性心脏病的遗传原因

OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis

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