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Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

机译：使用基于原物的检测（POD）方法灵敏和特异地检测镶嵌染色体异常

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摘要

BackgroundMosaic somatic alterations are present in all multi-cellular organisms, but the physiological effects of low-level mosaicism are largely unknown. Most mosaic alterations remain undetectable with current analytical approaches, although the presence of such alterations is increasingly implicated as causative for disease.

机译：背景技术马赛克体细胞的变化存在于所有多细胞生物中，但是低水平马赛克的生理作用尚不清楚。尽管目前越来越多地暗示这种改变是疾病的诱因，但大多数马赛克改变仍无法通过当前的分析方法检测到。

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期刊名称 BMC Genomics
作者
Joseph D Baugher; Benjamin D Baugher; Matthew D Shirley; Jonathan Pevsner;
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作者单位

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年(卷),期 2013(14),-1
年度 2013
页码 367
总页数 22
原文格式 PDF
正文语种
中图分类遗传学;应用微生物学;
关键词
Mosaicism Parent-of-origin Trio Parent–child Software Microarray Autism Cleft HapMap;

机译：镶嵌;原产地;三重奏;亲子;软件;微阵列;自闭症;left裂;HapMap;

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专利

1. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method [J] . Joseph D Baugher, Benjamin D Baugher, Matthew D Shirley, BMC Genomics . 2013,第1期

机译：使用基于原物的检测（POD）方法灵敏，特异地检测镶嵌染色体异常
2. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. [J] . Grati FR, Grimi B, Frascoli G, European journal of human genetics: EJHG . 2006,第3期

机译：在检测绒毛膜绒毛中的镶嵌染色体异常后，确认羊膜细胞的镶嵌性和单亲二体性。
3. Sensitivity and specificity of prenatal screening methods for detection of risk of fetal chromosomal abnormalities [J] . Sunil Kumar Juneja, Pooja Tandon, Anjali Sharma, International Journal of Reproduction, Contraception, Obstetrics and Gynecology . 2020,第2期

机译：产前筛查方法检测胎儿染色体异常风险的敏感性和特异性
4. A real-time detection method of abnormal building energy consumption data coupled POD-LSE and FCD [C] . Zhongjiao Ma, Jialin Song, Jili Zhang International Symposium on Heating, Ventilation and Air Conditioning . 2017

机译：异常建筑能耗数据耦合POD-LSE和FCD的实时检测方法
5. Mosaicism for trisomy 21: Utility of array-based technology for its detection and its influence on telomere length and the frequency of acquired chromosome abnormalities. [D] . Charalsawadi, Chariyawan. 2011

机译：21三体马赛克：基于阵列技术的实用性，可用于检测其对端粒长度和获得性染色体异常的频率的影响。
6. Detection of chromosomal mosaicism by computer methods. [O] . J F Jackson, P E Pulley 1966

机译：通过计算机方法检测染色体镶嵌。
7. Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method [O] . 2013

机译：使用基于原物的检测（POD）方法灵敏和特异地检测镶嵌染色体异常
8. Detection of Chromosomal Abnormalities in Human Sperm [R] . Brandriff, B., Gordon, L., Ashworth, A. K., 1985

机译：人精子染色体异常的检测

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

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