کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1998895 1065826 2012 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
چکیده انگلیسی

Medicine is rapidly applying exome and genome sequencing to the diagnosis and management of human disease. Somatic mosaicism, however, is not readily detectable by these means, and yet it accounts for a significant portion of undiagnosed disease. We present a rapid and sensitive method, the Continuous Distribution Function as applied to single nucleotide polymorphism (SNP) array data, to quantify somatic mosaicism throughout the genome. We also demonstrate application of the method to novel diseases and mechanisms.


► Quantifying mosaicism using SNP chips and the cumulative distribution function.
► Detection of full and partial chromosomal mosaicism missed by other techniques.
► Identification of a new disease mechanism: graded loss of single telomeres.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 105, Issue 4, April 2012, Pages 665–671
نویسندگان
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