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J-GLOBAL ID：202002288595296912   整理番号：20A2215933

ローパスゲノム配列決定:臨床細胞遺伝学における検証された方法【JST・京大機械翻訳】

Low-pass genome sequencing: a validated method in clinical cytogenetics

著者 (34件)： Chau Matthew Hoi Kin (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Chau Matthew Hoi Kin (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Chau Matthew Hoi Kin (Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China) ,  Wang Huilin (Department of Center Laboratory, Maternal-Fetal Medicine Institute, Shenzhen Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Baoan Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Shenzhen, China) ,  Lai Yunli (Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China) ,  Lai Yunli (Genetic and Metabolic Central Laboratory, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China) ,  Zhang Yanyan (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Zhang Yanyan (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Xu Fuben (Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China) ,  Xu Fuben (Genetic and Metabolic Central Laboratory, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China) ,  Tang Yanqing (Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China) ,  Tang Yanqing (Genetic and Metabolic Central Laboratory, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China) ,  Wang Yanfang (Department of Center Laboratory, Maternal-Fetal Medicine Institute, Shenzhen Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Baoan Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Shenzhen, China) ,  Chen Zihan (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Leung Tak Yeung (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Leung Tak Yeung (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Leung Tak Yeung (The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics, Hong Kong, China) ,  Chung Jacqueline Pui Wah (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Kwok Yvonne K. (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Kwok Yvonne K. (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Chong Shuk Ching (Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China) ,  Chong Shuk Ching (The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics, Hong Kong, China) ,  Chong Shuk Ching (Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China) ,  Choy Kwong Wai (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Choy Kwong Wai (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Choy Kwong Wai (Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China) ,  Choy Kwong Wai (The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics, Hong Kong, China) ,  Zhu Yuanfang (Department of Center Laboratory, Maternal-Fetal Medicine Institute, Shenzhen Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Baoan Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Shenzhen, China) ,  Xiong Likuan (Department of Center Laboratory, Maternal-Fetal Medicine Institute, Shenzhen Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Baoan Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Shenzhen, China) ,  Wei Weihong (Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China) ,  Wei Weihong (Genetic and Metabolic Central Laboratory, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China) ,  Dong Zirui (Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China) ,  Dong Zirui (Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China) ,  Dong Zirui (Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China)
資料名： Human Genetics  (Human Genetics)
巻： 139  号： 11  ページ： 1403-1415  発行年： 2020年 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： ヒト疾患を引き起こすことが知られている臨床的に重要なコピー数変異体(CNV)は,染色体マイクロアレイ分析(CMA)により日常的に検出される。最近,ゲノム配列決定(GS)がCNV分析のために導入されている。しかし,配列決定深さ(配列決定読取長と読取量によって決定)は,異なる実験室にわたる可変パラメータである。配列決定深さの変動はCNV検出分解能に影響し,また,交差実験室参照または比較を困難にする。本研究では,高読取り深さGS(30×)と報告された臨床的に重要なCNVを有する50試料からのデータを用いて,CNV分析に対する最適読取量と最も費用対効果の高い読取長を,それぞれ15百万読取と単一末端50bp(0.25倍と等価)であることを示した。さらに,30%の低いモザイクレベルのCNVが容易に検出でき,さらに,2.5Mbより大きいCNVも20%の低いモザイクレベルで検出可能であった。ここでは,低域GS対ルーチンCMAの遡及的なバックツーバック比較試験を,532出生前,流産,および出生後症例に対し,全診断収率は,CMAに対し22.4%(119/532),低域GSに対し23.1%(123/532)であった。このように,低域GS対CMAによる診断収率の全体的相対的改善は,ΔΨ3.4%(4/119)であった。出生前,流産,および出生後症例の間の陰窩および臨床的に有意なCNVの同定は,より高い解像度でのCNV検出が紹介適応に関係なく臨床診断のために保証されることを示した。全体として,本研究は,分子細胞遺伝学的試験のための第1段階遺伝子試験として低域GSを支持する。Copyright Springer-Verlag GmbH Germany, part of Springer Nature 2020 Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 分解能 ,  遺伝子 ,  染色体 ,  モザイク性 ,  *流産 ,  比較試験 ,  コピー数 ,  DNAマイクロアレイ
準シソーラス用語： *細胞遺伝学 ,  分子遺伝学 ,  費用対効果 ,  臨床診断 ,  出生 ,  *ゲノム配列 ,  陰窩 , 【Automatic Indexing@JST】

分類 (2件)： 遺伝子の構造と化学  (EC02020U) ,  分子・遺伝情報処理  (JE15040B)

タイトルに関連する用語 (5件)： パス ,  ゲノム配列 ,  臨床 ,  細胞遺伝学 ,  検証