Publication
Case-level data sharing makes a difference in variant classification
| dc.contributor.author | Chora, J.R. | |
| dc.contributor.author | Tichý, L. | |
| dc.contributor.author | Lacocca, M.A. | |
| dc.contributor.author | Freiberger, T. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2022-07-08T16:19:49Z | |
| dc.date.available | 2022-07-08T16:19:49Z | |
| dc.date.issued | 2021-05 | |
| dc.description.abstract | The American College of Medical Genetics and Genomics guidelines for variant classification are composed of several evidence criteria that, when combined, lead to a 5-tier pathogenicity variant classification. Several criteria rely on case-level data from patients, relatives, or controls with or without a particular variant of interest. (...) | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8109 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Case-level data sharing makes a difference in variant classification | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | (Online) | pt_PT |
| oaire.citation.title | Curating the Clinical Genome Conference 2021, 12-14 maio 2021 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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