Pedro G. Ferreira graduated in Systems and Informatics Engineering in 2002 and completed his PhD in Artificial Intelligence from the University of Minho in November 2007 with a scholarship from FCT-Portugal. From 2008 to 2012, he was a Postdoctoral Fellow at the Bioinformatics and Genomics Laboratory, Center for Genomic Regulation (CRG), Barcelona. He was supported by an FCT-Portugal fellowship in the first 3 years. During this period he worked extensively with next generation sequencing (NGS) data. He collaborated with several groups in the CRG and the University Pompeu Fabra and several international consortia. In November 2012, he joined as a Postdoctoral Fellow the Functional Population Genomics and Genetics of Complex Traits group, School of Medicine, University of Geneva. His research was focused on genomics for personalized health. During his two postdocs, he was or is involved in four major international consortia: ENCODE, ICGC-CLL, GEUVADIS and GTEx. In August 2014, he joined the start-up company Coimbra Genomics as a senior bioinformatics specialist. He worked in the design and development of clinical decision support systems for personalized medicine. Late 2014, he was awarded an FCT Investigator ‘Starting grant’ and in May 2015 he started at IPATIMUP. His main research focus is the development of information systems to interpret personal genomics data for clinical diagnosis and precision medicine.
Characterization of human transcriptomes across multiple individuals and tissues
The emergence of high-throughput sequencing has brought substantial advances in human population and cancer genomics research. The current pace of advance of this technology made possible to assay with high depth of coverage the DNA sequence of known exons (Exome-seq), whole genomes (WGS), transcriptomes (RNA-seq) and epigenomes of tumor and normal samples. The drop in the costs allowing the sequencing of increasingly larger cohorts creates an unprecendent explosion of data. Several large-scale consortia are currently analyzing hundreds of normal or tumor samples. Projects such as the TCGA, ICGC, CCLE, ENCODE, GEUVADIS or GTEx are dedicated to the comprehensive sequencing, characterization and analysis of the genomic changes in different types of tumors, cell lines or tissues. In this talk some of the recent findings from projects that have sequenced the transcriptome from hundreds of individuals in a single or across multiple tissues will be described. Their relevance for population genomics and biomedical research will be discussed.