Whole-genome sequencing in health care Recommendations of the European Society of Human Genetics
Whole-genome sequencing in health care Recommendations of the European Society of Human Genetics
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DOI：
10.1038/ejhg.2013.46
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发表时间：
2013-06-01
影响因子：
5.2
通讯作者：
de Wert, Guido M. W. R.
中科院分区：
文献类型：
--
作者：
van El, Carla G.;Cornel, Martina C.;de Wert, Guido M. W. R.
CONSIDERATIONS The changing landscape of diagnostic genetic testing in health care Until recently, a diagnostic genetic test tended to focus on one specific question. In the case of a clinical suspicion of a monogenic condition, DNA analysis of one or a few specific genes was performed, whereas in cytogenetics, the whole genome was analysed at a relatively low resolution of 5–10Mb to answer a defined clinical question. Increasingly, however, diagnostic tests now look at a large panel of genes (eg, genes implied in cardiovascular events) via microarrays, a relatively targeted approach. In addition, non-targeted high-resolution next-generation sequencing techniques may be applied, detecting mutations throughout the genome. Whole-genome-or exome sequencing (WGS, WES) generates an enormous amount of raw data requiring complex bioinformatic analyses to extract useful information. Depending on the aim of the test, the analysis may focus on the entire genome (whole-genome analysis, WGA), the exome (wholeexome analysis), a selection of genes, the high-resolution quantitative comparison between copies of different chromosomes or chromosomal segments, or other selected analyses. Experience with recent changes in DNA-laboratory methods with targeted DNA sequencing or microarrays might be used to improve the understanding of the challenges for professionals, as WGS and WES are introduced into health care. 5
