Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach
نویسندگان
چکیده
منابع مشابه
Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
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Exome sequencing constitutes an important technology for the study of human hereditary diseases and cancer. However, the ability of this approach to identify copy number alterations in primary tumor samples has not been fully addressed. Here we show that somatic copy number alterations can be reliably estimated using exome sequencing data through a strategy that we have termed exome2cnv. Using ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2015
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2014.124