title: New generation genomic platforms in investigation of complex diseases and BEN.
abstract: New generation genomic platforms enable us to decipher the complex genetic basis of complex diseases and Balkan Endemic Nephropathy (BEN) at a high-throughput basis. They give valuable information about predisposing Single Nucleotide Polymorphisms (SNPs), Copy Number Variations (CNVs) or Loss of Heterozygosity (LOH) (using SNP-array) and about disease-causing mutations along the whole sequence of candidate-genes (using Next Generation Sequencing). This information could be used for screening of individuals in risk families and moving the main medicine stream to the prevention. They also might have an impact on more effective treatment. Here we discuss these genomic platforms and report some applications of SNP-array technology in a case with familial nephrotic syndrome.
authors.affiliation: Department of Medical Genetics, Medical University, Sofia, Bulgaria.
authors.forename: Ivanka
authors.initials: I
authors.lastname: Dimova
authors.affiliation: Department of Medical Genetics, Medical University, Sofia, Bulgaria.
authors.forename: Stoyan
authors.initials: S
authors.lastname: Lalchev
authors.forename: Maksim
authors.initials: M
authors.lastname: Malinov
authors.forename: Valentin
authors.initials: V
authors.lastname: Djonov
authors.forename: Draga
authors.initials: D
authors.lastname: Toncheva
mesh_terms: D001449:Balkan Nephropathy / Q000235:genetics*; D056915:DNA Copy Number Variations; D016678:Genome; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis