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Article: A dyadic approach to the delineation of diagnostic entities in clinical genomics

TitleA dyadic approach to the delineation of diagnostic entities in clinical genomics
Authors
Issue Date2021
PublisherCell Press. The Journal's web site is located at http://www.cell.com/ajhg/home
Citation
The American Journal of Human Genetics, 2021, v. 108, p. 8-15 How to Cite?
AbstractThe delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as 'GENE-related phenotype descriptor' (e.g., 'CFTR-related cystic fibrosis'). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.
Persistent Identifierhttp://hdl.handle.net/10722/295475
ISSN
2019 Impact Factor: 10.502
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBiesecker, LG-
dc.contributor.authorAdam, MP-
dc.contributor.authorAlkuraya, FS-
dc.contributor.authorAmemiya, AR-
dc.contributor.authorBarnshad, MJ-
dc.contributor.authorBeck, AE-
dc.contributor.authorBennett, JT-
dc.contributor.authorBird, LM-
dc.contributor.authorCarey, JC-
dc.contributor.authorChung, B-
dc.contributor.authorClark, RD-
dc.contributor.authorCox, TC-
dc.contributor.authorCurry, C-
dc.contributor.authorDinulos, MBP-
dc.contributor.authorDobyns, WB-
dc.contributor.authorGlampietro, PF-
dc.contributor.authorGirisha, KM-
dc.contributor.authorGlass, IA-
dc.contributor.authorGraham, JM-
dc.contributor.authorGripp, KW-
dc.contributor.authorHaldeman-Englert, CR-
dc.contributor.authorHall, BD-
dc.contributor.authorInnes, AM-
dc.contributor.authorKalish, JM-
dc.contributor.authorKeppler-Noreuil, KM-
dc.contributor.authorKosaki, K-
dc.contributor.authorKozel, BA-
dc.contributor.authorMirzaa, GM-
dc.contributor.authorMulvihill, JJ-
dc.contributor.authorNowaczyk, MJM-
dc.contributor.authorPagon, RA-
dc.contributor.authorRetterer, K-
dc.contributor.authorRope, AF-
dc.contributor.authorSanchez-Lara, PA-
dc.contributor.authorStevens, LH-
dc.contributor.authorShieh, JT-
dc.contributor.authorSlavotinek, AM-
dc.contributor.authorSobering, AK-
dc.contributor.authorStevens, CA-
dc.contributor.authorStevension, DA-
dc.contributor.authorTan, TY-
dc.contributor.authorTan, WH-
dc.contributor.authorTsai, AC-
dc.contributor.authorWeaver, DD-
dc.contributor.authorWilliams, MS-
dc.contributor.authorZackai, E-
dc.contributor.authorZarate, YA-
dc.date.accessioned2021-01-25T11:15:26Z-
dc.date.available2021-01-25T11:15:26Z-
dc.date.issued2021-
dc.identifier.citationThe American Journal of Human Genetics, 2021, v. 108, p. 8-15-
dc.identifier.issn0002-9297-
dc.identifier.urihttp://hdl.handle.net/10722/295475-
dc.description.abstractThe delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as 'GENE-related phenotype descriptor' (e.g., 'CFTR-related cystic fibrosis'). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.-
dc.languageeng-
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/ajhg/home-
dc.relation.ispartofThe American Journal of Human Genetics-
dc.titleA dyadic approach to the delineation of diagnostic entities in clinical genomics-
dc.typeArticle-
dc.identifier.emailChung, B: bhychung@hku.hk-
dc.identifier.emailTan, TY: tanty@hku.hk-
dc.identifier.authorityChung, B=rp00473-
dc.identifier.authorityTan, TY=rp01380-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1016/j.ajhg.2020.11.013-
dc.identifier.pmid33417889-
dc.identifier.pmcidPMC7820621-
dc.identifier.hkuros320960-
dc.identifier.volume108-
dc.identifier.spage8-
dc.identifier.epage15-
dc.identifier.isiWOS:000606453800002-
dc.publisher.placeUnited States-

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