外显子组测序
外显子组
DNA测序
生物
计算生物学
全基因组测序
Illumina染料测序
人类基因组
遗传学
深度测序
基因组学
癌症基因组测序
杂交基因组组装
单细胞测序
基因组
桑格测序
参考基因组
突变
DNA
基因
作者
Michael J. Clark,Rui Chen,Hugo Y. K. Lam,Konrad J. Karczewski,Rong Chen,Ghia Euskirchen,Atul J. Butte,M Snyder
摘要
Whole exome sequencing by high-throughput sequencing of target-enriched genomic DNA (exome-seq) has become common in basic and translational research as a means of interrogating the interpretable part of the human genome at relatively low cost. We present a comparison of three major commercial exome sequencing platforms from Agilent, Illumina and Nimblegen applied to the same human blood sample. Our results suggest that the Nimblegen platform, which is the only one to use high-density overlapping baits, covers fewer genomic regions than the other platforms but requires the least amount of sequencing to sensitively detect small variants. Agilent and Illumina are able to detect a greater total number of variants with additional sequencing. Illumina captures untranslated regions, which are not targeted by the Nimblegen and Agilent platforms. We also compare exome sequencing and whole genome sequencing (WGS) of the same sample, demonstrating that exome sequencing can detect additional small variants missed by WGS.
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