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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing

✍ Scribed by Hernan, Imma; BorrÃ s, Emma; de Sousa Dias, Miguel; Gamundi, MarÃa JosÃ©; MaÃ±Ã©, BegoÃ±a; Llort, Gemma; AgÃºndez, JosÃ© A.G.; Blanca, Miguel; Carballo, Miguel

Book ID: 120346283
Publisher: American Society for Investigative Pathology
Year: 2012
Tongue: English
Weight: 743 KB
Volume: 14
Category: Article
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2012.01.013

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As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need for clear interpretation of the test results is apparent. However, for many disease genes, including the breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction