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dc.date.accessioned2020-05-16T18:01:33Z
dc.date.available2020-05-16T18:01:33Z
dc.date.created2019-07-12T22:12:43Z
dc.date.issued2019
dc.identifier.citationHsieh, Tzung-Chien Mensah, Martin A. Pantel, Jean T. Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi Beate Biskup, Saskia Borisov, Oleg Braaten, Øivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja David Eden, Hilda Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Dukic, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W. Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J. Mangold, Elisabeth Marín Reina, Purificación Martinez Carrascal, Antonio Mitter, Diana Morlan Herrador, Laura Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole Ringmann Fagerberg, Christina Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kuyng Sznajer, Yves Thiel, Christian T. Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wisniewska, Marzena Wollnik, Bernd Yeung, Ming W. Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M. . PEDIA: prioritization of exome data by image analysis. Genetics in Medicine. 2019
dc.identifier.urihttp://hdl.handle.net/10852/75783
dc.description.abstractPurpose Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. Results The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20–89% and the top 10 accuracy rate by more than 5–99% for the disease-causing gene. Conclusion Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.en_US
dc.languageEN
dc.publisherLippincott Williams & Wilkins
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titlePEDIA: prioritization of exome data by image analysisen_US
dc.typeJournal articleen_US
dc.creator.authorHsieh, Tzung-Chien
dc.creator.authorMensah, Martin A.
dc.creator.authorPantel, Jean T.
dc.creator.authorAguilar, Dione
dc.creator.authorBar, Omri
dc.creator.authorBayat, Allan
dc.creator.authorBecerra-Solano, Luis
dc.creator.authorBentzen, Heidi Beate
dc.creator.authorBiskup, Saskia
dc.creator.authorBorisov, Oleg
dc.creator.authorBraaten, Øivind
dc.creator.authorCiaccio, Claudia
dc.creator.authorCoutelier, Marie
dc.creator.authorCremer, Kirsten
dc.creator.authorDanyel, Magdalena
dc.creator.authorDaschkey, Svenja
dc.creator.authorDavid Eden, Hilda
dc.creator.authorDevriendt, Koenraad
dc.creator.authorWilson, Sandra
dc.creator.authorDouzgou, Sofia
dc.creator.authorDukic, Dejan
dc.creator.authorEhmke, Nadja
dc.creator.authorFauth, Christine
dc.creator.authorFischer-Zirnsak, Björn
dc.creator.authorFleischer, Nicole
dc.creator.authorGabriel, Heinz
dc.creator.authorGraul-Neumann, Luitgard
dc.creator.authorGripp, Karen W.
dc.creator.authorGurovich, Yaron
dc.creator.authorGusina, Asya
dc.creator.authorHaddad, Nechama
dc.creator.authorHajjir, Nurulhuda
dc.creator.authorHanani, Yair
dc.creator.authorHertzberg, Jakob
dc.creator.authorHoertnagel, Konstanze
dc.creator.authorHowell, Janelle
dc.creator.authorIvanovski, Ivan
dc.creator.authorKaindl, Angela
dc.creator.authorKamphans, Tom
dc.creator.authorKamphausen, Susanne
dc.creator.authorKarimov, Catherine
dc.creator.authorKathom, Hadil
dc.creator.authorKeryan, Anna
dc.creator.authorKnaus, Alexej
dc.creator.authorKöhler, Sebastian
dc.creator.authorKornak, Uwe
dc.creator.authorLavrov, Alexander
dc.creator.authorLeitheiser, Maximilian
dc.creator.authorLyon, Gholson J.
dc.creator.authorMangold, Elisabeth
dc.creator.authorMarín Reina, Purificación
dc.creator.authorMartinez Carrascal, Antonio
dc.creator.authorMitter, Diana
dc.creator.authorMorlan Herrador, Laura
dc.creator.authorNadav, Guy
dc.creator.authorNöthen, Markus
dc.creator.authorOrrico, Alfredo
dc.creator.authorOtt, Claus-Eric
dc.creator.authorPark, Kristen
dc.creator.authorPeterlin, Borut
dc.creator.authorPölsler, Laura
dc.creator.authorRaas-Rothschild, Annick
dc.creator.authorRandolph, Linda
dc.creator.authorRevencu, Nicole
dc.creator.authorRingmann Fagerberg, Christina
dc.creator.authorRobinson, Peter Nick
dc.creator.authorRosnev, Stanislav
dc.creator.authorRudnik, Sabine
dc.creator.authorRudolf, Gorazd
dc.creator.authorSchatz, Ulrich
dc.creator.authorSchossig, Anna
dc.creator.authorSchubach, Max
dc.creator.authorShanoon, Or
dc.creator.authorSheridan, Eamonn
dc.creator.authorSmirin-Yosef, Pola
dc.creator.authorSpielmann, Malte
dc.creator.authorSuk, Eun-Kuyng
dc.creator.authorSznajer, Yves
dc.creator.authorThiel, Christian T.
dc.creator.authorThiel, Gundula
dc.creator.authorVerloes, Alain
dc.creator.authorVrecar, Irena
dc.creator.authorWahl, Dagmar
dc.creator.authorWeber, Ingrid
dc.creator.authorWinter, Korina
dc.creator.authorWisniewska, Marzena
dc.creator.authorWollnik, Bernd
dc.creator.authorYeung, Ming W.
dc.creator.authorZhao, Max
dc.creator.authorZhu, Na
dc.creator.authorZschocke, Johannes
dc.creator.authorMundlos, Stefan
dc.creator.authorHorn, Denise
dc.creator.authorKrawitz, Peter M.
cristin.unitcode185,52,13,0
cristin.unitnameSenter for medisinsk etikk
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.cristin1711376
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Genetics in Medicine&rft.volume=&rft.spage=&rft.date=2019
dc.identifier.jtitleGenetics in Medicine
dc.identifier.volume21
dc.identifier.issue12
dc.identifier.startpage2807
dc.identifier.endpage2814
dc.identifier.doihttps://doi.org/10.1038/s41436-019-0566-2
dc.identifier.urnURN:NBN:no-78850
dc.type.documentTidsskriftartikkelen_US
dc.type.peerreviewedPeer reviewed
dc.source.issn1098-3600
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/75783/1/PEDIA_prioritization%2Bof%2Bexome%2Bdata%2Bby%2Bimage%2Banalysis.pdf
dc.type.versionPublishedVersion


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