Univerza na Primorskem Fakulteta za matematiko, naravoslovje in informacijske tehnologije

petek, 6. marec 2020 Aleš MAVER: Big data and the human genome

V ponedeljek, 9. marca 2020, bo ob 16.00 uri v prostorih Fakultete za matematiko, naravoslovje in informacijske tehnologije Univerze na Primorskem, Glagoljaška 8, Koper predavanje v okviru PONEDELJKOVEGA SEMINARJA RAČUNALNIŠTVA IN INFORMATIKE Oddelkov za Informacijske znanosti in tehnologije UP FAMNIT in UP IAM.

ČAS/PROSTOR: 9. marec 2020 ob 16.00 v FAMNIT-VP2



Dr. Aleš Maver has been working in the field of human genetics since 2002, and in his work he focuses on research of complex diseases, bioinformatics and diagnostics of rare genetic disorders. After graduating from medical school in 2011, he continued with his PhD work on rare genetic variations in familial multiple sclerosis using sequence analysis of the complete set of genes in the human genome (exome sequencing). Since then, he's been dealing with the use of big genomic data to diagnose patients with rare diseases. To that end, in 2013, he participated in the establishment of the Centre for Mendelian Genomics, which now functions as a center that offers state-of-the-art technology and bioinformatics to diagnose genetic diseases and is involved in global genome-wide sequencing data initiatives. Today his main interests include identifying new genes for genetic diseases, improving the interpretation of genetic variants at the genomic level and improving the exchange of genomic data in Slovenia and Europe.


NASLOV: Big data and the human genome



New genomic technologies have, in the recent years, provided unimaginable opportunities for human genome investigations, and thus significant advances in disease diagnosis and the discovery of new genes and disease mechanisms. With new approaches, especially through next-generation sequencing, sequencing of the entire human genome has become significantly cheaper, faster and more accessible. At the same time, we require novel bioinformatic approaches and significantly greater computational capacity to process the large amounts of data generated using novel genetic technologies. In my talk, I would like to present how we are facing the new challenges of big data in the time of genomic medicine, how we use big data of genomic sequencing in the discovery of new genes for human hereditary diseases, and how the analysis of such data has become the basis of modern genetic diagnostics in Slovenia today.


Predavanje bo potekalo v angleškem jeziku.