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2篇 您的检索式:作者名="David S.Cram"
    题名 作者 年代 出处 被引量
1The Performance of Whole Genome Amplification Methods and Next-Generation Sequencing for Pre-Implantation Genetic Diagnosis of Chromosomal Abnormalities显示文摘Reliable and accurate pre-implantation genetic diagnosis(PGD) of patient's embryos by next-generation sequencing(NGS) is dependent on efficient whole genome amplification(WGA) of a representative biopsy sample. However, the performance of the current state of the art WGA methods has not been evaluated for sequencing. Using low template DNA(15 pg) and single cells, we showed that the two PCR-based WGA systems Sure Plex and MALBAC are superior to the REPLI-g WGA multiple displacement amplification(MDA) system in terms of consistent and reproducible genome coverage and sequence bias across the 24 chromosomes, allowing better normalization of test to reference sequencing data. When copy number variation sequencing(CNV-Seq) was applied to single cell WGA products derived by either Sure Plex or MALBAC amplification, we showed that known disease CNVs in the range of 3e15 Mb could be reliably and accurately detected at the correct genomic positions. These findings indicate that our CNV-Seq pipeline incorporating either Sure Plex or MALBAC as the key initial WGA step is a powerful methodology for clinical PGD to identify euploid embryos in a patient's cohort for uterine transplantation.Na Li Li Wang Hui Wang Minyue Ma Xiaohong Wang Yi Li Wenke Zhang Jianguang Zhang David S.Cram Yuanqing Yao 2015Journal of Genetics and Genomics2015,42,4:13
2A PGD Pregnancy Achieved by Embryo Copy Number Variation Sequencing with Confirmation by Non-Invasive Prenatal Diagnosis显示文摘Aneuploidy rates in embryos produced by assisted reproductive technologies commonly exceed 50%,particularly in couples where the woman is of advanced maternal age or has experienced repeated implantation failure(Harper et al.,2012).Pre-implantation genetic diagnosis(PGD)conducted at many fertility clinics worldwide is nowHui Wang Li Wang Minyue Ma Zhuo Song Jianguang Zhang Genming Xu Junmei Fan Na Li David S.Cram Yuanqing Yao 2014Journal of Genetics and Genomics2014,41,8:3
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