首页> 外文期刊>The Journal of molecular diagnostics: JMD >Erratum: A Clinically Validated Diagnostic Second-Generation Sequencing Assay for Detection of Hereditary BRCA1 and BRCA2 Mutations (Journal of Molecular Diagnostics (2013) 15 (796-809))
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Erratum: A Clinically Validated Diagnostic Second-Generation Sequencing Assay for Detection of Hereditary BRCA1 and BRCA2 Mutations (Journal of Molecular Diagnostics (2013) 15 (796-809))

机译:勘误:用于检测遗传性BRCA1和BRCA2突变的临床验证的诊断第二代测序方法(Journal of Molecular Diagnostics(2013)15(796-809))

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In the article entitled, "A Clinically Validated Diagnostic Second-Generation Sequencing Assay for Detection of Hereditary BRCA1 and BRCA2 Mutations" (Volume 15, pages 796-809 of the November 2013 issue of The Journal of Molecular Diagnostics), Supplemental Tables SI and S2 contained errors. Incorrect Human Genome Variation Society (HGVS) nomenclature was used to describe 10 variants. To correct those errors, 9 variants (of 398) were updated in Supplemental Table SI (retrospective samples), and 1 variant (of 517) was updated in Supplemental Table S2 (prospective samples). In addition, the protein HGVS nomenclature was updated to use 3-letter amino acid abbreviations. The conclusions of the paper (eg, the ability to detect variants and concordance) are not altered by the incorrect notation. The corrected Supplemental Tables SI and S2 appear online. The authors apologize for the error.
机译:在标题为“检测遗传性BRCA1和BRCA2突变的临床验证的诊断第二代测序方法”的文章(2013年11月,《分子诊断学杂志》第15卷,第796-809页)中,补充表S1和S2包含错误。不正确的人类基因组变异学会(HGVS)命名法用于描述10个变异。为了纠正这些错误,在补充表S1(回顾性样本)中更新了9个变体(398个),在补充表S2中(更新了样本)中更新了1个变体(517个)。此外,已更新蛋白质HGVS命名法,以使用3个字母的氨基酸缩写。本文的结论(例如,检测变体和一致性的能力)不会因错误的注释而改变。校正后的补充表S1和S2在线出现。作者对此错误表示歉意。

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