PRIMATESVS

Identification and characterization of primate structural variation and an assessment of intra-specific patterns of selection and copy-number variation

 Coordinatore UNIVERSIDAD POMPEU FABRA 

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 Nazionalità Coordinatore Spain [ES]
 Totale costo 1˙599˙999 €
 EC contributo 1˙599˙999 €
 Programma FP7-IDEAS-ERC
Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
 Code Call ERC-2010-StG_20091118
 Funding Scheme ERC-SG
 Anno di inizio 2010
 Periodo (anno-mese-giorno) 2010-12-01   -   2014-11-30

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    UNIVERSIDAD POMPEU FABRA

 Organization address address: PLACA DE LA MERCE 10-12
city: BARCELONA
postcode: 8002

contact info
Titolo: Dr.
Nome: Tomas
Cognome: Marques Bonet
Email: send email
Telefono: +34 93 3160887
Fax: +34 93 3160901

ES (BARCELONA) hostInstitution 1˙599˙999.20
2    UNIVERSIDAD POMPEU FABRA

 Organization address address: PLACA DE LA MERCE 10-12
city: BARCELONA
postcode: 8002

contact info
Titolo: Ms.
Nome: Eva
Cognome: Martin
Email: send email
Telefono: 34935422140
Fax: 34935421440

ES (BARCELONA) hostInstitution 1˙599˙999.20

Mappa


 Word cloud

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variation    genome    human    genomes    disease    multiple    regions    copy    evolution    primates    individuals    structural    sequencing    differences    species    variants   

 Obiettivo del progetto (Objective)

'Structural variation and copy-number variant regions (CNVs) (including segmental duplications) are usually underrepresented in genome analyses but are becoming a prominent feature in understanding the organization of genomes as well as many diseases. Large-scale comparative sequencing projects promised a golden era in the study of human evolution, however, many genome regions, especially these complicated regions, are clearly not solved.

Despite international efforts to characterize thousand of human genomes to understand the extent of structural variants in the human species, primates (our closest relatives) have somehow been forgotten. Yet, they are the ideal set of species to study the evolution of these features from both mechanistic and adaptive points of view. Most genome projects include only one individual as a reference but in order to understand the impact of structural variants in the evolution of every species we need to re-sequence multiple individuals of each species. We can only understand the origins of genomic variants and phenotypical differences among species if we can model variation within species and compare it to a proper perspective with the differences among species.

The object of this proposal is to discover the extent of genome structural polymorphism within the great ape species by generating next-generation sequencing datasets at high coverage from multiple individuals of diverse species and subspecies, characterizing structural variants and validating them experimentally. The results of these analyses will assess the rate of genome variation in primate evolution, characterize regional deletions and copy-number expansions as well as determine the patterns of selection acting upon them and whether the diversity of these segments is consistent with other forms of genetic variation among humans and great apes. In so doing, a fundamental insight will be provided into evolutionary variation of these regions among primates and into the mechanisms of disease-causing rearrangements with multiple repercussions in the understanding of evolution and human disease.'

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