期刊
JOURNAL OF MOLECULAR DIAGNOSTICS
卷 18, 期 4, 页码 507-515出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jmoldx.2016.02.003
关键词
-
类别
资金
- Department of Pathology at Brigham and Women's Hospital
Targeted next-generation sequencing panels to identify genetic alterations in cancers are increasingly becoming an integral part of clinical practice. We report here the design, validation, and implementation of a comprehensive 95-gene next-generation sequencing panel targeted for hematologic malignancies that we named rapid heme panel. Rapid heme panel is amplicon based and covers hotspot regions of oncogenes and most of the coding regions of tumor suppressor genes. It is composed of 1330 amplicons and covers 175 kb of genomic sequence in total. Rapid heme panel's average coverage is 1500x with <5% of the amplicons with <50x coverage, and it reproducibly detects single nucleotide variants and small insertions/deletions at allele frequencies of >= 5%. Comparison with a capture-based next-generation sequencing assay showed that there is >95% concordance among a wide array of variants across a range of allele frequencies. Read count analyses that used rapid heme panel showed high concordance with karyotypic results when tumor content was >30%. The average turnaround time was 7 days over a 6-month span with an average volume of >= 40 specimens per week and a low sample fail rate (<= 1%), demonstrating its suitability for clinical application.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据