Functional annotation of genomic signatures using array CGH and NGS analysis of phenotypic variants with Mendelian inheritance.  Page description

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Details of project

 
Identifier
103983
Type K
Principal investigator Melegh, Béla
Title in Hungarian Genomikus elemek functionális annotálása Mendeli öröklésmenetű fenotípus variánsok array CGH és NGS analízisével.
Title in English Functional annotation of genomic signatures using array CGH and NGS analysis of phenotypic variants with Mendelian inheritance.
Keywords in Hungarian Annotálás, DNS, array CHG, új generációs szekvenálás, fenotípus
Keywords in English Annotation, DNA, array CGH, Nex gen sequencing, rare diseases, phenotypic variants
Discipline
Genetic epidemiology (Council of Medical and Biological Sciences)50 %
Biological basis of diseases related to the above (Council of Medical and Biological Sciences)30 %
Public health, health services, environmental and occupational medicine, epidemiology, medical ethics (Council of Medical and Biological Sciences)20 %
Ortelius classification: Medicine
Panel Genetics, Genomics, Bioinformatics and Systems Biology
Department or equivalent Insitute of Medical Genetics (University of Pécs)
Participants Berenténé Bene, Judit Ágnes
Czakó, Márta
Hadzsiev, Kinga
Halmainé dr. Komlósi, Katalin
Járomi, Luca
Kisfali, Péter
Komoly, Sámuel
Magyari, Lili
Sipeky, Csilla
Starting date 2012-10-01
Closing date 2017-07-31
Funding (in million HUF) 27.948
FTE (full time equivalent) 5.25
state running project




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