Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants
作者： Kyung Kim , Moon-Woo Seong , Won-Hyong Chung , Sung Sup Park , Sangseob Leem
关键词: Genetics 、 Sequencing data 、 Biology 、 Deep sequencing 、 Personal genomics 、 Single cell sequencing 、 Exome sequencing 、 Cancer genome sequencing 、 Exome
摘要: Sequencing depth, which is directly related to the cost and time required for generation, processing, maintenance of next-generation sequencing data, an important factor in practical utilization such data clinical fields. Unfortunately, identifying exome depth adequate use a challenge that has not been addressed extensively. Here, we investigate effect on discovery sequence variants use. Toward this, sequenced ten germ-line blood samples from breast cancer patients Illumina platform GAII(x) at high ~200×. We observed most function-related diverse human exonic regions could be detected 120×. Furthermore, investigation using diagnostic gene set showed number identified reached plateau average about Moreover, phenomena were consistent across samples.
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