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Validation of simultaneous diagnosis of single gene disorder (SGD) and next generation sequencing (NGS) - based comprehensive chromosomal aneuploidy screening (CCS) from a single trophectoderm (TE) biopsy

机译：从单一促肾小组（TE）活组织检查的基于单基因障碍（SGD）和下一代测序（NGS）的综合染色体非综合体筛选（CCS）的同时诊断验证

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J. Rajchel; C. Vega; H. Garnsey; R.T. Scott; C. Jalas; R. Scott; X. Tao;
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1. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification [J] . Zimmerman Rebekah S., Jalas Chaim, Tao Xin, Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2016,第2期

机译：无需全基因组扩增即可进行并发植入前遗传学诊断的单基因疾病和全面染色体非整倍性筛选的开发和验证
2. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients. [J] . Schoolcraft WB, Treff NR, Stevens JM, Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2011,第3期

机译：不育症患者的滋养外胚层活检，囊胚玻璃化和单核苷酸多态性基于微阵列的全面染色体筛选。
3. Validation and application of next-generation (ngs)-based protocol for 24-chromosome aneuploidy screening of embryos [J] . Fiorentino F. Chromosome research: An international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology . 2014,第4期

机译：下一代基于（ngs）的胚胎24染色体非整倍性筛选方法的验证和应用
4. A MEMS-based approach to detection of single nucleotide polymorphisms for genetic disorder diagnosis [C] . Zhu Jing, Palla Mirko, Ronca Stefano, Micro Electro Mechanical Systems (MEMS), 2012 IEEE 25th International Conference on . 2012

机译：基于MEMS的单核苷酸多态性检测方法，用于遗传性疾病诊断
5. Using Next Generation Sequencing (NGS) to identify and predict microRNAs (miRNAs) potentially affecting Schizophrenia and Bipolar Disorder [D] . Williamson, Vernell Seay 2012

机译：使用下一代测序（NGS）识别和预测可能影响精神分裂症和双相情感障碍的microRNA（miRNA）
6. A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms [O] . Alessandro Liquori, Iván Lesende, Laura Palomo, 2021

机译：用于同时检测骨髓增生综合征（MDS）和相关骨髓肿瘤患者的基因突变和大型染色体异常的一次运行的下一代测序（NGS）测定。
7. Analysis of chromosome-specific results for next generation sequencing (NGS) of trophectoderm (TE) biopsies hints at mechanisms of occurrence for segmental aneuploidies [O] . D.H. McCulloh, A.G. Besser, C. McCaffrey, 2018

机译：分析促杂交测序（NGS）的染色体特异性结果（TE）活组织检查暗示在分段空转面的发生机制下

Validation of simultaneous diagnosis of single gene disorder (SGD) and next generation sequencing (NGS) - based comprehensive chromosomal aneuploidy screening (CCS) from a single trophectoderm (TE) biopsy

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