@article{491fe0d96d754a79a1931161fc6f1c3e,
title = "A dyadic approach to the delineation of diagnostic entities in clinical genomics",
abstract = "The 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.",
author = "Biesecker, {Leslie G.} and Adam, {Margaret P.} and Alkuraya, {Fowzan S.} and Amemiya, {Anne R.} and Bamshad, {Michael J.} and Beck, {Anita E.} and Bennett, {James T.} and Bird, {Lynne M.} and Carey, {John C.} and Brian Chung and Clark, {Robin D.} and Cox, {Timothy C.} and Cynthia Curry and Dinulos, {Mary Beth Palko} and Dobyns, {William B.} and Giampietro, {Philip F.} and Girisha, {Katta M.} and Glass, {Ian A.} and Graham, {John M.} and Gripp, {Karen W.} and Haldeman-Englert, {Chad R.} and Hall, {Bryan D.} and Innes, {A. Micheil} and Kalish, {Jennifer M.} and Keppler-Noreuil, {Kim M.} and Kenjiro Kosaki and Kozel, {Beth A.} and Mirzaa, {Ghayda M.} and Mulvihill, {John J.} and Nowaczyk, {Malgorzata J.M.} and Pagon, {Roberta A.} and Kyle Retterer and Rope, {Alan F.} and Sanchez-Lara, {Pedro A.} and Seaver, {Laurie H.} and Shieh, {Joseph T.} and Slavotinek, {Anne M.} and Sobering, {Andrew K.} and Stevens, {Cathy A.} and Stevenson, {David A.} and Tan, {Tiong Yang} and Tan, {Wen Hann} and Tsai, {Anne C.} and Weaver, {David D.} and Williams, {Marc S.} and Elaine Zackai and Zarate, {Yuri A.}",
note = "Publisher Copyright: {\textcopyright} 2020 American Society of Human Genetics",
year = "2021",
month = jan,
day = "7",
doi = "10.1016/j.ajhg.2020.11.013",
language = "English (US)",
volume = "108",
pages = "8--15",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",
}