PMP22 duplication detecting through whole genome sequencing. Homo sapiens
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA298442
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资源简介：
A 1.4-Mb tandem duplication in chromosome 17p11.2-12, including the peripheral myelin protein22 (PMP22) gene, is responsible for Charcot-Marie-Tooth disease type 1A (CMT1A). A next-generation sequencing (NGS)-based assay for detecting copy number variations (CNVs) was developed to simultaneously detect the 1.4-Mb CMT1A duplication and determine the comprehensive chromosomal composition at the single-cell level; following which, it was applied to embryos from a female CMT1A patient.
创建时间：
2015-10-11
