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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 31 - 39 (9page)
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초록· 키워드
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Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields. Unfortunately, identifying an exome sequencing depth adequate for clinical use is a challenge that has not been addressed extensively. Here, we investigate the effect of exome sequencing depth on the discovery of sequence variants for clinical use. Toward this, we sequenced ten germ-line blood samples from breast cancer patients on the Illumina platform GAII(x) at a high depth of ${\sim}200{\times}$. We observed that most function-related diverse variants in the human exonic regions could be detected at a sequencing depth of $120{\times}$. Furthermore, investigation using a diagnostic gene set showed that the number of clinical variants identified using exome sequencing reached a plateau at an average sequencing depth of about $120{\times}$. Moreover, the phenomena were consistent across the breast cancer samples.
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참고문헌 (32)
참고문헌 신청
Ng SB. / 2009 / Targeted capture and massively parallel sequencing of 12 human exomes / Nature 461:272~276
Choi M. / 2009 / Genetic diagnosis by whole exome capture and massively parallel DNA sequencing / Proc Natl Acad Sci U S A 106:19096~19101
Gullapalli RR. / 2012 / Next generation sequencing in clinical medicine : Challenges and lessons for pathology and biomedical informatics / J Pathol Inform 3:40
de Ligt J. / 2012 / Diagnostic exome sequencing in persons with severe intellectual disability / N Engl J Med 367:1921~1929
허희재 / 2013 / The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation / Annals of Laboratory Medicine 33(1):75~79
Choi M. / 2009 / Genetic diagnosis by whole exome capture and massively parallel DNA sequencing / Proc Natl Acad Sci U S A 106:19096~19101
Gullapalli RR. / 2012 / Next generation sequencing in clinical medicine : Challenges and lessons for pathology and biomedical informatics / J Pathol Inform 3:40
de Ligt J. / 2012 / Diagnostic exome sequencing in persons with severe intellectual disability / N Engl J Med 367:1921~1929
허희재 / 2013 / The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation / Annals of Laboratory Medicine 33(1):75~79
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