{"id":231,"date":"2022-06-27T16:09:02","date_gmt":"2022-06-27T14:09:02","guid":{"rendered":"https:\/\/neuropediatoolbox.wordpress.com\/?p=231"},"modified":"2022-09-22T17:43:29","modified_gmt":"2022-09-22T17:43:29","slug":"clingen","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/clingen\/","title":{"rendered":"Patogenicidad de una variante."},"content":{"rendered":"\n

Para poder establecer la causalidad de una variante gen\u00e9tica respecto de un fenotipo, es necesario obtener evidencia cient\u00edfica suficiente. La clasificaci\u00f3n de patogenicidad propuesta por la ACMG establece 5 categor\u00edas de clasificaci\u00f3n: Benigna, probablemente benigna, variante de significado incierto, probablemente patog\u00e9nica y patog\u00e9nica. Estas categorias est\u00e1n definidas en funci\u00f3n de la probabilidad de que exista una relaci\u00f3n de causalidad entre la variante detectada y el fenotipo, de forma que una variante clasificada como probablemente patog\u00e9nica tiene un 90% de certeza de ser patog\u00e9nica, y una clasificada como patog\u00e9nica tiene un 99% de probabilidad de serlo realmente. Esto tambi\u00e9n significa, que clasificar una variante como VSI significa que la probabilidad de que la variante sea patog\u00e9nica se sit\u00faa en alg\u00fan punto entre el 11 y el 89% de probabilidad. <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

Tambi\u00e9n ha propuesto un sistema de an\u00e1lisis de los distintos tipos de evidencia, desde los datos obtenidos en estudios poblacionales, los datos de an\u00e1lisis funcional, predicci\u00f3n in silico o estudio de segregaci\u00f3n, y los ha clasificado en funci\u00f3n del peso relativo de cada tipo de datos en la atribuci\u00f3n de causalidad (evidencia muy fuerte, fuerte, moderada, de apoyo (supporting) o no suficiente por si misma). <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

Existen varias bases de datos en las que se puede consultar la patogenicidad de las variantes identificadas en un estudio de secuenciaci\u00f3n, si es que han sido descritas en la bibliograf\u00eda con anterioridad y se han realizado investigaciones sobre la causalidad. ClinGen <\/a>es la base de datos aprobada por la FDA para este prop\u00f3sito. <\/p>\n\n\n\n

En el caso de que las variantes no hayan sido investigadas con anterioridad, ser\u00e1 necesario revisar las bases de datos poblacionales, tanto de personas sanas como de variantes patog\u00e9nicas, as\u00ed como otros tipos de evidencia. Varsome<\/a> es una herramienta web que utiliza m\u00faltiples bases de datos (incluida ClinGen) para proporcionar una interpretaci\u00f3n automatizada siguiendo los criterios del ACMG.<\/p>\n\n\n

\n\n\t\t332710<\/span>\n\t\t{332710:8R2WCUBM},{332710:N25CS3PK}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 231<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t
\n\t\t\t
\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228R2WCUBM%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22MacArthur%20et%20al.%22%2C%22parsedDate%22%3A%222014%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BMacArthur%20DG%2C%20Manolio%20TA%2C%20Dimmock%20DP%2C%20Rehm%20HL%2C%20Shendure%20J%2C%20Abecasis%20GR%2C%20et%20al.%20Guidelines%20for%20investigating%20causality%20of%20sequence%20variants%20in%20human%20disease.%20Nature%20%5BInternet%5D.%202014%20Abril%20%5Bcited%202015%20June%2023%5D%3B508%287497%29%3A469%26%23x2013%3B76.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fnature%5C%2Fjournal%5C%2Fv508%5C%2Fn7497%5C%2Ffull%5C%2Fnature13127.html%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fnature%5C%2Fjournal%5C%2Fv508%5C%2Fn7497%5C%2Ffull%5C%2Fnature13127.html%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Guidelines%20for%20investigating%20causality%20of%20sequence%20variants%20in%20human%20disease%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20G.%22%2C%22lastName%22%3A%22MacArthur%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%20A.%22%2C%22lastName%22%3A%22Manolio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20P.%22%2C%22lastName%22%3A%22Dimmock%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%20L.%22%2C%22lastName%22%3A%22Rehm%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Shendure%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%20R.%22%2C%22lastName%22%3A%22Abecasis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20R.%22%2C%22lastName%22%3A%22Adams%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%20B.%22%2C%22lastName%22%3A%22Altman%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%20E.%22%2C%22lastName%22%3A%22Antonarakis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%20A.%22%2C%22lastName%22%3A%22Ashley%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20C.%22%2C%22lastName%22%3A%22Barrett%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%20G.%22%2C%22lastName%22%3A%22Biesecker%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20F.%22%2C%22lastName%22%3A%22Conrad%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%20M.%22%2C%22lastName%22%3A%22Cooper%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%20J.%22%2C%22lastName%22%3A%22Cox%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20J.%22%2C%22lastName%22%3A%22Daly%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20B.%22%2C%22lastName%22%3A%22Gerstein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20B.%22%2C%22lastName%22%3A%22Goldstein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20N.%22%2C%22lastName%22%3A%22Hirschhorn%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%20M.%22%2C%22lastName%22%3A%22Leal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%20A.%22%2C%22lastName%22%3A%22Pennacchio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20A.%22%2C%22lastName%22%3A%22Stamatoyannopoulos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%20R.%22%2C%22lastName%22%3A%22Sunyaev%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Valle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%20F.%22%2C%22lastName%22%3A%22Voight%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22W.%22%2C%22lastName%22%3A%22Winckler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Gunter%22%7D%5D%2C%22abstractNote%22%3A%22The%20discovery%20of%20rare%20genetic%20variants%20is%20accelerating%2C%20and%20clear%20guidelines%20for%20distinguishing%20disease-causing%20sequence%20variants%20from%20the%20many%20potentially%20functional%20variants%20present%20in%20any%20human%20genome%20are%20urgently%20needed.%20Without%20rigorous%20standards%20we%20risk%20an%20acceleration%20of%20false-positive%20reports%20of%20causality%2C%20which%20would%20impede%20the%20translation%20of%20genomic%20research%20findings%20into%20the%20clinical%20diagnostic%20setting%20and%20hinder%20biological%20understanding%20of%20disease.%20Here%20we%20discuss%20the%20key%20challenges%20of%20assessing%20sequence%20variants%20in%20human%20disease%2C%20integrating%20both%20gene-level%20and%20variant-level%20support%20for%20causality.%20We%20propose%20guidelines%20for%20summarizing%20confidence%20in%20variant%20pathogenicity%20and%20highlight%20several%20areas%20that%20require%20further%20resource%20development.%22%2C%22date%22%3A%22Abril%2024%2C%202014%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnature13127%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Fnature%5C%2Fjournal%5C%2Fv508%5C%2Fn7497%5C%2Ffull%5C%2Fnature13127.html%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220028-0836%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%227BFFA6NH%22%5D%2C%22dateModified%22%3A%222025-11-10T01%3A02%3A04Z%22%7D%7D%2C%7B%22key%22%3A%22N25CS3PK%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Richards%20et%20al.%22%2C%22parsedDate%22%3A%222015-05%22%2C%22numChildren%22%3A3%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BRichards%20S%2C%20Aziz%20N%2C%20Bale%20S%2C%20Bick%20D%2C%20Das%20S%2C%20Gastier-Foster%20J%2C%20et%20al.%20Standards%20and%20Guidelines%20for%20the%20Interpretation%20of%20Sequence%20Variants%3A%20A%20Joint%20Consensus%20Recommendation%20of%20the%20American%20College%20of%20Medical%20Genetics%20and%20Genomics%20and%20the%20Association%20for%20Molecular%20Pathology.%20Genet%20Med%20%5BInternet%5D.%202015%20May%20%5Bcited%202016%20Sept%206%5D%3B17%285%29%3A405%26%23x2013%3B24.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4544753%5C%2F%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4544753%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Standards%20and%20Guidelines%20for%20the%20Interpretation%20of%20Sequence%20Variants%3A%20A%20Joint%20Consensus%20Recommendation%20of%20the%20American%20College%20of%20Medical%20Genetics%20and%20Genomics%20and%20the%20Association%20for%20Molecular%20Pathology%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sue%22%2C%22lastName%22%3A%22Richards%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nazneen%22%2C%22lastName%22%3A%22Aziz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Sherri%22%2C%22lastName%22%3A%22Bale%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Bick%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Soma%22%2C%22lastName%22%3A%22Das%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Julie%22%2C%22lastName%22%3A%22Gastier-Foster%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Wayne%20W.%22%2C%22lastName%22%3A%22Grody%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Madhuri%22%2C%22lastName%22%3A%22Hegde%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elaine%22%2C%22lastName%22%3A%22Lyon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Elaine%22%2C%22lastName%22%3A%22Spector%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karl%22%2C%22lastName%22%3A%22Voelkerding%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Heidi%20L.%22%2C%22lastName%22%3A%22Rehm%22%7D%5D%2C%22abstractNote%22%3A%22The%20American%20College%20of%20Medical%20Genetics%20and%20Genomics%20%28ACMG%29%20previously%20developed%20guidance%20for%20the%20interpretation%20of%20sequence%20variants.%20In%20the%20past%20decade%2C%20sequencing%20technology%20has%20evolved%20rapidly%20with%20the%20advent%20of%20high-throughput%20next%20generation%20sequencing.%20By%20adopting%20and%20leveraging%20next%20generation%20sequencing%2C%20clinical%20laboratories%20are%20now%20performing%20an%20ever%20increasing%20catalogue%20of%20genetic%20testing%20spanning%20genotyping%2C%20single%20genes%2C%20gene%20panels%2C%20exomes%2C%20genomes%2C%20transcriptomes%20and%20epigenetic%20assays%20for%20genetic%20disorders.%20By%20virtue%20of%20increased%20complexity%2C%20this%20paradigm%20shift%20in%20genetic%20testing%20has%20been%20accompanied%20by%20new%20challenges%20in%20sequence%20interpretation.%20In%20this%20context%2C%20the%20ACMG%20convened%20a%20workgroup%20in%202013%20comprised%20of%20representatives%20from%20the%20ACMG%2C%20the%20Association%20for%20Molecular%20Pathology%20%28AMP%29%20and%20the%20College%20of%20American%20Pathologists%20%28CAP%29%20to%20revisit%20and%20revise%20the%20standards%20and%20guidelines%20for%20the%20interpretation%20of%20sequence%20variants.%20The%20group%20consisted%20of%20clinical%20laboratory%20directors%20and%20clinicians.%20This%20report%20represents%20expert%20opinion%20of%20the%20workgroup%20with%20input%20from%20ACMG%2C%20AMP%20and%20CAP%20stakeholders.%20These%20recommendations%20primarily%20apply%20to%20the%20breadth%20of%20genetic%20tests%20used%20in%20clinical%20laboratories%20including%20genotyping%2C%20single%20genes%2C%20panels%2C%20exomes%20and%20genomes.%20This%20report%20recommends%20the%20use%20of%20specific%20standard%20terminology%3A%20%5Cu2018pathogenic%5Cu2019%2C%20%5Cu2018likely%20pathogenic%5Cu2019%2C%20%5Cu2018uncertain%20significance%5Cu2019%2C%20%5Cu2018likely%20benign%5Cu2019%2C%20and%20%5Cu2018benign%5Cu2019%20to%20describe%20variants%20identified%20in%20Mendelian%20disorders.%20Moreover%2C%20this%20recommendation%20describes%20a%20process%20for%20classification%20of%20variants%20into%20these%20five%20categories%20based%20on%20criteria%20using%20typical%20types%20of%20variant%20evidence%20%28e.g.%20population%20data%2C%20computational%20data%2C%20functional%20data%2C%20segregation%20data%2C%20etc.%29.%20Because%20of%20the%20increased%20complexity%20of%20analysis%20and%20interpretation%20of%20clinical%20genetic%20testing%20described%20in%20this%20report%2C%20the%20ACMG%20strongly%20recommends%20that%20clinical%20molecular%20genetic%20testing%20should%20be%20performed%20in%20a%20CLIA-approved%20laboratory%20with%20results%20interpreted%20by%20a%20board-certified%20clinical%20molecular%20geneticist%20or%20molecular%20genetic%20pathologist%20or%20equivalent.%22%2C%22date%22%3A%222015-5%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fgim.2015.30%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4544753%5C%2F%22%2C%22PMID%22%3A%2225741868%22%2C%22PMCID%22%3A%22PMC4544753%22%2C%22ISSN%22%3A%221098-3600%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%227BFFA6NH%22%2C%22FCKFQGK8%22%2C%22LZWEG8HJ%22%5D%2C%22dateModified%22%3A%222025-09-27T22%3A01%3A38Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t
\n
\n
\n
1.<\/div>
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, et al. Guidelines for investigating causality of sequence variants in human disease. Nature [Internet]. 2014 Abril [cited 2015 June 23];508(7497):469\u201376. Available from: http:\/\/www.nature.com\/nature\/journal\/v508\/n7497\/full\/nature13127.html<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
\n
\n
\n
1.<\/div>
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med [Internet]. 2015 May [cited 2016 Sept 6];17(5):405\u201324. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4544753\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n\n\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

Para poder establecer la causalidad de una variante gen\u00e9tica respecto de un fenotipo, es necesario obtener evidencia cient\u00edfica suficiente. La clasificaci\u00f3n de patogenicidad propuesta por la ACMG establece 5 categor\u00edas de clasificaci\u00f3n: Benigna, probablemente benigna, variante de significado incierto, probablemente patog\u00e9nica y patog\u00e9nica. Estas categorias est\u00e1n definidas en funci\u00f3n de la probabilidad de que exista … <\/p>\n

Continue reading \u00abPatogenicidad de una variante.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2307,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-231","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/231","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=231"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/231\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2307"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=231"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=231"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=231"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}