Clinical Validation of a Haplotyping Method with Next-Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Clinical validation of a haplotyping method with next-generation sequencing.
One of the most persistent problems in clinical genetic testing is interpretation of compound heterozygotes. Particularly problematic are reces-sive genes for which compound heterozygosity is relatively common, such as CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), the gene responsible for Ͼ90% of congenital adrenal hyperplasia (CAH) 1 cases. Next-generation se-quencing (NGS)...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2015
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2014.228627