High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays
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چکیده
منابع مشابه
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
BACKGROUND Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SL...
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Although genomewide association studies have successfully identified associations of many common single-nucleotide polymorphisms (SNPs) with common diseases, the SNPs implicated so far account for only a small proportion of the genetic variability of tested diseases. It has been suggested that common diseases may often be caused by rare alleles missed by genomewide association studies. To ident...
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ژورنال
عنوان ژورنال: Breast Cancer Research and Treatment
سال: 2009
ISSN: 0167-6806,1573-7217
DOI: 10.1007/s10549-009-0639-z