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阵列比较基因组杂交技术的最新进展及其在人类遗传学中的应用。

Recent advances in array comparative genomic hybridization technologies and their applications in human genetics.

作者信息

Lockwood William W, Chari Raj, Chi Bryan, Lam Wan L

机构信息

Cancer Genetics and Developmental Biology, British Columbia Cancer Research Centre, Vancouver BC, Canada V5Z 1L3.

出版信息

Eur J Hum Genet. 2006 Feb;14(2):139-48. doi: 10.1038/sj.ejhg.5201531.

DOI:10.1038/sj.ejhg.5201531
PMID:16288307
Abstract

Array comparative genomic hybridization (array CGH) is a method used to detect segmental DNA copy number alterations. Recently, advances in this technology have enabled high-resolution examination for identifying genetic alterations and copy number variations on a genome-wide scale. This review describes the current genomic array platforms and CGH methodologies, highlights their applications for studying cancer genetics, constitutional disease and human variation, and discusses visualization and analytical software programs for computational interpretation of array CGH data.

摘要

阵列比较基因组杂交(array CGH)是一种用于检测DNA片段拷贝数改变的方法。最近,该技术的进展使得能够在全基因组范围内进行高分辨率检测,以识别基因改变和拷贝数变异。本文综述了当前的基因组阵列平台和CGH方法,重点介绍了它们在癌症遗传学、先天性疾病和人类变异研究中的应用,并讨论了用于对阵列CGH数据进行计算解释的可视化和分析软件程序。

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Recent advances in array comparative genomic hybridization technologies and their applications in human genetics.阵列比较基因组杂交技术的最新进展及其在人类遗传学中的应用。
Eur J Hum Genet. 2006 Feb;14(2):139-48. doi: 10.1038/sj.ejhg.5201531.
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