Practical interpretation of CYP2D6 haplotypes: Comparison and integration of automated and expert calling
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- 作者：Gualberto Ruañ ; oa ; g.ruano@genomas.net" class="auth_mail" title="E-mail the corresponding author ; Mohan Kocherlaa ; James S. Graydona ; Theodore R. Holfordb ; Gregory S. Makowskic ; John W. Goethed
- 关键词：CYP2D6 haplotyping ; Genotyping software ; Buccal swab ; Gene duplications ; Molecular diagnostics interpretation ; Laboratory Information System
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 May 2016
- 年：2016
- 卷：456
- 期：Complete
- 页码：7-14
- 全文大小：514 K
文摘
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Population genetics was applied to expert calling (EC) and automated calling (AC) of CYP2D6 haplotypes
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Sample was 2406 patients referred to a high-complexity pharmacogenetics clinical lab
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Haplotypes were called from buccal swab DNA on signal from Luminex xMap analyzer
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EC and AC haplotype frequencies were convergent (p = 0.10); Most duplications required EC
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Integration of EC with AC is a practical strategy for CYP2D6 clinical haplotyping