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Volume 12 Journal of Molecular and Genetic Medicine
ISSN: 1747-0862
May 21-23, 2018 Barcelona, Spain
&
Integrative Biology
6th International Conference on
Genomics and Molecular Biology
10th International Conference on
Genomics 2018 and Integrative Biology 2018
May 21-23, 2018
JOINT EVENT
Exome analyses in subfamily trios from large family tree in the south-eastern Moravia (Czech
Republic) population with high incidence of parkinsonism
Radek Vodicka
University Hospital Olomouc, Czech Republic
There has been previously described higher prevalence of Parkinsonism in small isolated region from the South-Eastern
Moravia. We used NGS Ion AmpliSeq Exome method (IonTorrent) for two (A and B) subfamily trios. Each trio comprised
of two affected and one healthy person. DNA exome libraries were sequenced on IonPI chips. Variants were predicted using
Torrent Suite and Ion Reporter softwares. Aligned reads (BAM files) were than analyzed using Ion Reporter Whole Exome
Trio workflow. Final filtering was done with respect to population frequency, variant effects and with respect to the presence of
variants in Parkinsonism disease responsible genes. Last filter was done with respect to the segregation of the disease. Almost
whole exome was sequenced with coverage 1-20 and 90% of exome was covered more than 20x in all the samples. Together
more than 70,000 variants with average base coverage depth 75 were analyzable in both trios before filtering. After filtering
there were found 99 and 96 variants in trio A and B respectively. The most potentially associating variants with parkinsonism
are as given in tabulated form as follows:
Detailed whole exome analyses in genetic isolated parkinsonism patients could contribute to further understanding of
molecular-genetic mechanism and background of the disease.
Biography
Radek Vodicka has completed his PhD study of Medical Genetics at the Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic in 2003. In
2015 he was appointed as an Associate Professor in the same field. Since 2001, he has been working in the DNA Diagnostics Laboratory at the Institute of Medical
Genetics, University Hospital Olomouc, Czech Republic. He is also working as an Associate Professor at the Faculty of Medicine and Dentistry, Palacky University
Olomouc. He has published more than 35 papers.
Radek Vodicka, J Mol Genet Med 2018, Volume 12
DOI: 10.4172/1747-0862-C2-028