کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5680153 1408693 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A RaDiCAL gene hunt
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
A RaDiCAL gene hunt
چکیده انگلیسی
In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease Collaboration for Autosomal Loci (RaDiCAL) studies the rarest diseases, where occasionally only a single proband is available to identify putative disease-causing genes. This article reviews how “RaDiCAL” addressed some of the challenges in generating informed consent documents for international participants and considers the emerging topic of the “right not to know” in study design.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Taibah University Medical Sciences - Volume 12, Issue 3, June 2017, Pages 194-198
نویسندگان
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