کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3327896 1590642 2007 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Standard Mutation Nomenclature in Molecular Diagnostics : Practical and Educational Challenges
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی انفورماتیک سلامت
پیش نمایش صفحه اول مقاله
Standard Mutation Nomenclature in Molecular Diagnostics : Practical and Educational Challenges
چکیده انگلیسی

To translate basic research findings into clinical practice, it is essential that information about mutations and variations in the human genome are communicated easily and unequivocally. Unfortunately, there has been much confusion regarding the description of genetic sequence variants. This is largely because research articles that first report novel sequence variants do not often use standard nomenclature, and the final genomic sequence is compiled over many separate entries. In this article, we discuss issues crucial to clear communication, using examples of genes that are commonly assayed in clinical laboratories. Although molecular diagnostics is a dynamic field, this should not inhibit the need for and movement toward consensus nomenclature for accurate reporting among laboratories. Our aim is to alert laboratory scientists and other health care professionals to the important issues and provide a foundation for further discussions that will ultimately lead to solutions.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Molecular Diagnostics - Volume 9, Issue 1, February 2007, Pages 1–6
نویسندگان
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