_meeting NEXT-GENERATION SEQUENCING APPLICATIONS IN GENETIC AND INFECTIOUS DISEASES _Lisboa, 5th November 2012 _Recent years have witnessed the emergence of new sequencing technologies that are revolutionizing the approach to public health problems. These “next-generation” technologies greatly facilitate and speed the identification of new mutations in undiagnosed genetic diseases and the characterization of microbial agents at high risk to public health. Moreover, because of the constantly decreasing costs of genome sequencing, next-generation technologies will likely become in the near future an integral part of the diagnostic setting of genetic and infectious diseases. This meeting will present work carried out by various groups in the diagnosis and research of human diseases as well as novel developments in sequencing platforms and their applications in public health. _information _venue: Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P. - INSA Avenida Padre Cruz, 1649-016 Lisboa, Portugal _registration: http://www.insa.pt Registration fee €80,00 (includes meeting documentation, coffee-breaks and lunch) _contacts: email: [email protected] Tel.: +351 217 508 132 _organizing committee _Luís Vieira, Sónia Pedro, Ana Cardoso, Catarina Silva, Paulo Gonçalves INSA, Lisboa _meeting NEXT-GENERATION SEQUENCING APPLICATIONS IN GENETIC AND INFECTIOUS DISEASES _Lisboa, 5th November 2012 _programme 08:30 Registration 09:00 Welcome Message José Pereira Miguel (President of INSA) Luís Vieira (Organizing Committee) _opening session 09:10 - Chair: Helena Rebelo de Andrade (INSA, Lisboa) An overview of large scale genome and transcriptome analysis: from DNA microarrays to next-generation technologies Margarida Gama Carvalho (University of Lisboa) Targeted next-generation sequencing: technical aspects and applications in medical research Wim Dorlijn (Agilent Technologies, Amsterdam, The Netherlands) _Updates in Next-Generation Sequencing Platforms and Applications 14:30 - Chair: Sónia Pedro (INSA, Lisboa) illumina Caroline Thureau (France) Roche Daniela Pinto (Portugal) Life Technologies João Caldeira (Portugal) 10:10 Coffee-break 15:40 Coffee-break _Genetic Disorders _Infectious Diseases 10:30 - Chairs: Paula Gameiro (IPOFG, Lisboa) João Gonçalves (INSA, Lisboa) 16:00 - Chairs: Henrique Silveira (IHMT, Lisboa) João Paulo Gomes (INSA, Lisboa) Novel molecular insights into acute myeloid leukemia using amplicon next-generation deepsequencing Vera Grossmann (MLL Münchner Leukämielabor GmbH, München, Germany) Non-optical massive parallel DNA sequencing: towards the diagnostic setting José Carlos Machado (IPATIMUP, Porto) Exome sequencing of Portuguese patients with familial hypercholesterolaemia Mafalda Bourbon (INSA, Lisboa) 12:00 - Chair: Peter Jordan (INSA, Lisboa) Next-generation sequencing in aging research: emerging applications and pitfalls Genomic variations among clinical isolates of Pseudomonas aeruginosa Pedro Santos (University of Minho, Braga) Next-generation sequencing for bacterial molecular epidemiology studies: promises and challenges João Carriço (IMM, Lisboa) Small non-coding RNAs: a possible role in HIV infection Andreia J. Amaral (University of Lisboa) 17:15 End of the meeting [This programme is subject to change without prior notice] João Pedro de Magalhães (Institute of Integrative Biology, University of Liverpool, United Kingdom) Next-generation sequencing technologies applied to microRNA discovery and profiling Ana Raquel Soares (University of Aveiro) 13:00 Lunch _with the support of: