New generation genomic platforms in investigation of complex diseases and BEN.

Dimova, I; Lalchev, S; Malinov, M; Djonov, Valentin; Toncheva, D (2014). New generation genomic platforms in investigation of complex diseases and BEN. Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biološki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences, 35(1), pp. 25-33.

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(Full text is available at http://www.manu.edu.mk/prilozi). 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. Key words: complex diseases, genome wide association studies, SNP, genomic arrays, next generation sequ-encing.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Anatomy

UniBE Contributor:

Djonov, Valentin

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0351-3254

Language:

English

Submitter:

Ruslan Hlushchuk

Date Deposited:

13 Oct 2014 10:21

Last Modified:

13 Oct 2014 10:21

PubMed ID:

24798593

URI:

https://boris.unibe.ch/id/eprint/54049

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