Publication
Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsis
| dc.contributor.author | Cardoso, M. | |
| dc.contributor.author | Oliva-Teles, N. | |
| dc.contributor.author | Tkachenko, N. | |
| dc.contributor.author | Talkowski, M.E. | |
| dc.contributor.author | Morton, C.C. | |
| dc.contributor.author | Fortuna, A.M. | |
| dc.contributor.author | David, D. | |
| dc.date.accessioned | 2018-03-29T11:30:30Z | |
| dc.date.available | 2018-03-29T11:30:30Z | |
| dc.date.issued | 2017-11 | |
| dc.description.abstract | Chromothripsis is an extreme form of complex chromosomal rearrangement (CCR), characterized by a localized shattering and random reassembly of genomic fragments. The aim of this study is the characterization at sequence-level resolution of a cytogenetically identified CCR 46,XY,t(7;14)(q21.13;q31),inv(15)(q21.2q26.1) associated with cognitive disabilities, and intrafamilial phenotype-genotype correlation analysis. Chromosomal alterations were mapped by large-insert whole genome sequencing (liWGS). | pt_PT |
| dc.description.sponsorship | FCT | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5492 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.relation.publisherversion | http://spgh.net/wp-content/uploads/2017/11/Livro-Abstracts-SPGH-2017_final_com-logotipos-002.pdf | pt_PT |
| dc.subject | Cognitive Disabilities | pt_PT |
| dc.subject | Chromothripsis | pt_PT |
| dc.subject | Complex Chromosomal Rearrangement | pt_PT |
| dc.subject | Nucleotide-level Resolution | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsis | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/HMSP-ICT%2F0016%2F2013/PT | |
| oaire.citation.conferencePlace | Capuchos, Almada, Portugal | pt_PT |
| oaire.citation.title | 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 novembro 2017 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | 55f3392d-71be-4224-bedd-9feb4a06c428 | |
| relation.isProjectOfPublication.latestForDiscovery | 55f3392d-71be-4224-bedd-9feb4a06c428 |