Publication
A machine learning approach for the prioritization of disease-associated genetic variants from ngs datasets
| dc.contributor.author | Martiniano, Hugo | |
| dc.contributor.author | Vilela, Joana | |
| dc.contributor.author | Marques, Ana R. | |
| dc.contributor.author | Santos, João | |
| dc.contributor.author | Rasga, Célia | |
| dc.contributor.author | Vicente, Astrid | |
| dc.date.accessioned | 2021-03-13T18:05:35Z | |
| dc.date.available | 2021-03-13T18:05:35Z | |
| dc.date.issued | 2020-11-20 | |
| dc.description.abstract | Our objective is to develop variant prioritization methods using machine learning approaches to predict genotype-phenotype associations, that can detect the most likely causal variants associated to a given phenotype. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7478 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Autism Spectrum Disorder | pt_PT |
| dc.subject | ASD | pt_PT |
| dc.subject | Machine Learning Approaches | pt_PT |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | pt_PT |
| dc.title | A machine learning approach for the prioritization of disease-associated genetic variants from ngs datasets | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal (online) | pt_PT |
| oaire.citation.title | 24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 20 novembro 2020 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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