Article
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
BJOG : an international journal of obstetrics and gynaecology - 1 Apr 2013
Ganesamoorthy D, Bruno D L, McGillivray G, Norris F, White S M, Adroub S, Amor D J, Yeung A, Oertel R, Pertile M D, Ngo C, Arvaj A R, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater H R
Abstract excerpt
OBJECTIVE: Several studies have already shown the superiority of chromosomal microarray analysis (CMA) compared with conventional karyotyping for prenatal investigation of fetal ultrasound abnormality. This study used very high-resolution single nucleotide polymorphism (SNP) arrays to determine the impact on detection rates of all clinical categories of copy number variations (CNVs), and address the issue of...
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