hereditary multiple exostoses (HME);; EXT1;; EXT2;; deletion mutation;acne inversa (AI);; hidradenitis suppurativa (HS);; exomes;; Sequence Capture;; traditional DNA sequencing;; next-generation DNA sequencing;;‘HS19’
遗传性多发性外生性骨疣;; EXT1基因;; EXT2基因;;缺失突变;反常性痤疮;;化脓性汗腺炎;;外显子组;; DNA传统测序;; Sequence Capture;;高通量测序;;“HS19”
参考来源 - 一个中国汉族遗传性多发性外生性骨疣家系和三个反常性痤疮家系的致病基因突变研究·2,447,543篇论文数据，部分数据来源于NoteExpress
这让不断增加的外显子组测序所鉴定的疾病列表又增加了一项。
This adds to the now growing list of disease disorders that have been identified by exome sequencing.
一些人认为，全基因组测序费用的下降将让外显子组测序很快过时。
Some have argued that the falling price of whole-genome sequencing will soon render exome sequencing obsolete (IS 4/16/2010).
“外显子组测序在稀有突变的发现上有很多优势，”Wang表示。
"Exome sequencing has a lot of advantages for the discovery of rare mutations," said Wang.
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