Exome sequencing: the expert view

被引:51
作者
Biesecker, Leslie G. [1 ,2 ]
Shianna, Kevin V. [3 ]
Mullikin, Jim C. [2 ,4 ]
机构
[1] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
[2] NHGRI, NIH Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA
[3] Duke Univ, Sch Med, Genome Anal Facil, Duke Ctr Human Genome Variat, Durham, NC 27710 USA
[4] NHGRI, Comparat Genom Unit, Genome Technol Branch, NIH, Bethesda, MD 20892 USA
关键词
Whole Genome Sequencing; Exome Sequencing; Causative Variant; Whole Exome Sequencing; Mendelian Disease;
D O I
10.1186/gb-2011-12-9-128
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
To complement our special issue on exome sequencing, Genome Biology asked several leaders in the field for their views on this new approach. Leslie G Biesecker (LGB), Jim C Mullikin (JM) and Kevin V Shianna (KVS) discuss the reasons for the popularity of exome sequencing and its contribution to genomics.
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页数:3
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