BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//Memento EPFL//
BEGIN:VEVENT
SUMMARY:The Human Transcriptome across Tissues and Individuals
DTSTART:20160706T113000
DTSTAMP:20260411T071849Z
UID:9a376c39bf2732bf18389d0efbdd4e596382a94df59098a899cb1847
CATEGORIES:Conferences - Seminars
DESCRIPTION:Prof. Roderic Guigó\, Universitat Pompeu Fabra\, Barcelona (E
 )\nBIOENGINEERING SEMINARAbstract:\nThe pilot phase of the Genotype-Tissue
  Expression (GTEx) project has produced RNASeq from 1\,641 samples origina
 ted from up to 43 tissues from 175 post-mortem donors\, and constitutes a 
 unique resource to investigate the human transcriptome across tissues and 
 individuals. Clustering of samples based on gene expression recapitulates 
 tissue types\, separating solid from not solid tissues\, while clustering 
 based on splicing separates neural from non-neural tissues\, suggesting th
 at post-transcriptional regulation plays a comparatively important role in
  the definition of neural tissues .About 47 % of the variation in gene exp
 ression can be explained by variation of across tissues\, while only 4% by
  variation across individuals. We find that the relative contribution of i
 ndividual variation is similar for lncRNAs and for protein coding genes. H
 owever\, we find that genes that vary with ethnicity are enriched in lncRN
 As\, whereas genes that vary with age are mostly protein coding. Among gen
 es that vary with gender\, we find novel candidates both to participate an
 d to escape X-inactivation. In addition\, by merging information on GWAS w
 e are able to identify specific candidate genes that may explain differenc
 es in susceptibility to cardiovascular diseases between males and females 
 and different ethnic groups. We find that genes that decrease with age are
  involved in neurodegenerative diseases such as Parkinson and Alzheimer an
 d identify novel candidates that could be involved in these diseases. In c
 ontrast to gene expression\, splicing varies similarly among tissues and i
 ndividuals\, and exhibits a larger proportion of residual unexplained vari
 ance. This may reflect that that stochastic\, non-functional fluctuations 
 of the relative abundances of splice isoforms may be more common than rand
 om fluctuations of gene expression. By comparing the variation of the abun
 dance of individual isoforms across all GTEx samples\, we find that a larg
 e fraction of this variation between tissues (84%) can be simply explained
  by variation in bulk gene expression\, with splicing variation contributi
 ng comparatively little. This strongly suggests that regulation at the pri
 mary transcription level is the main driver of tissue specificity. Althoug
 h blood is the most transcriptionally distinct of the surveyed tissues\, R
 NA levels monitored in blood may retain clinically relevant information th
 at can be used to help assess medical or biological conditions.Bio:\n1988 
 Ph.D. in Statistics. Universitat de Barcelona. (Spain).\n1988-1993 Postdoc
 toral researcher at the Molecular Biology Computer Research Resource. Dana
  Farber Cancer Institute\, Harvard University (Division of Biostatistics) 
 BioMolecular Engineering Research Center. Boston University and Theoretica
 l Biology And Biophysics Group (Los Alamos national Laboratory).\nSince 19
 94 Investigator at Institut Municipal d’Investigació Mèdica (IMIM). Ba
 rcelona\, (Spain).\nSince 2001 Associate Professor at the Universitat Pomp
 eu Fabra and coordinator of the Bioinformatics Programme at the Centre de 
 Regulació Genòmica\, Barcelona\, (Spain).Research areas:\nInvestigation 
 of the signals involved in gene specification in genomic sequences (promot
 er elements\, splice sites\, translation initiation sites\, ...). We are i
 nterested both in the mechanism of their recognition and processing\, and 
 in their evolution. In addition\, but related to this basic component of o
 ur research\, our group is also involved in the development of software fo
 r gene prediction and annotation in genomic sequences
LOCATION:SV 1717 https://plan.epfl.ch/?room==SV%201717
STATUS:CONFIRMED
END:VEVENT
END:VCALENDAR