PEDIA: prioritization of exome data by image analysis
dc.date.accessioned | 2020-05-16T18:01:33Z | |
dc.date.available | 2020-05-16T18:01:33Z | |
dc.date.created | 2019-07-12T22:12:43Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Hsieh, 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.uri | http://hdl.handle.net/10852/75783 | |
dc.description.abstract | Purpose 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.language | EN | |
dc.publisher | Lippincott Williams & Wilkins | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | PEDIA: prioritization of exome data by image analysis | en_US |
dc.type | Journal article | en_US |
dc.creator.author | Hsieh, Tzung-Chien | |
dc.creator.author | Mensah, Martin A. | |
dc.creator.author | Pantel, Jean T. | |
dc.creator.author | Aguilar, Dione | |
dc.creator.author | Bar, Omri | |
dc.creator.author | Bayat, Allan | |
dc.creator.author | Becerra-Solano, Luis | |
dc.creator.author | Bentzen, Heidi Beate | |
dc.creator.author | Biskup, Saskia | |
dc.creator.author | Borisov, Oleg | |
dc.creator.author | Braaten, Øivind | |
dc.creator.author | Ciaccio, Claudia | |
dc.creator.author | Coutelier, Marie | |
dc.creator.author | Cremer, Kirsten | |
dc.creator.author | Danyel, Magdalena | |
dc.creator.author | Daschkey, Svenja | |
dc.creator.author | David Eden, Hilda | |
dc.creator.author | Devriendt, Koenraad | |
dc.creator.author | Wilson, Sandra | |
dc.creator.author | Douzgou, Sofia | |
dc.creator.author | Dukic, Dejan | |
dc.creator.author | Ehmke, Nadja | |
dc.creator.author | Fauth, Christine | |
dc.creator.author | Fischer-Zirnsak, Björn | |
dc.creator.author | Fleischer, Nicole | |
dc.creator.author | Gabriel, Heinz | |
dc.creator.author | Graul-Neumann, Luitgard | |
dc.creator.author | Gripp, Karen W. | |
dc.creator.author | Gurovich, Yaron | |
dc.creator.author | Gusina, Asya | |
dc.creator.author | Haddad, Nechama | |
dc.creator.author | Hajjir, Nurulhuda | |
dc.creator.author | Hanani, Yair | |
dc.creator.author | Hertzberg, Jakob | |
dc.creator.author | Hoertnagel, Konstanze | |
dc.creator.author | Howell, Janelle | |
dc.creator.author | Ivanovski, Ivan | |
dc.creator.author | Kaindl, Angela | |
dc.creator.author | Kamphans, Tom | |
dc.creator.author | Kamphausen, Susanne | |
dc.creator.author | Karimov, Catherine | |
dc.creator.author | Kathom, Hadil | |
dc.creator.author | Keryan, Anna | |
dc.creator.author | Knaus, Alexej | |
dc.creator.author | Köhler, Sebastian | |
dc.creator.author | Kornak, Uwe | |
dc.creator.author | Lavrov, Alexander | |
dc.creator.author | Leitheiser, Maximilian | |
dc.creator.author | Lyon, Gholson J. | |
dc.creator.author | Mangold, Elisabeth | |
dc.creator.author | Marín Reina, Purificación | |
dc.creator.author | Martinez Carrascal, Antonio | |
dc.creator.author | Mitter, Diana | |
dc.creator.author | Morlan Herrador, Laura | |
dc.creator.author | Nadav, Guy | |
dc.creator.author | Nöthen, Markus | |
dc.creator.author | Orrico, Alfredo | |
dc.creator.author | Ott, Claus-Eric | |
dc.creator.author | Park, Kristen | |
dc.creator.author | Peterlin, Borut | |
dc.creator.author | Pölsler, Laura | |
dc.creator.author | Raas-Rothschild, Annick | |
dc.creator.author | Randolph, Linda | |
dc.creator.author | Revencu, Nicole | |
dc.creator.author | Ringmann Fagerberg, Christina | |
dc.creator.author | Robinson, Peter Nick | |
dc.creator.author | Rosnev, Stanislav | |
dc.creator.author | Rudnik, Sabine | |
dc.creator.author | Rudolf, Gorazd | |
dc.creator.author | Schatz, Ulrich | |
dc.creator.author | Schossig, Anna | |
dc.creator.author | Schubach, Max | |
dc.creator.author | Shanoon, Or | |
dc.creator.author | Sheridan, Eamonn | |
dc.creator.author | Smirin-Yosef, Pola | |
dc.creator.author | Spielmann, Malte | |
dc.creator.author | Suk, Eun-Kuyng | |
dc.creator.author | Sznajer, Yves | |
dc.creator.author | Thiel, Christian T. | |
dc.creator.author | Thiel, Gundula | |
dc.creator.author | Verloes, Alain | |
dc.creator.author | Vrecar, Irena | |
dc.creator.author | Wahl, Dagmar | |
dc.creator.author | Weber, Ingrid | |
dc.creator.author | Winter, Korina | |
dc.creator.author | Wisniewska, Marzena | |
dc.creator.author | Wollnik, Bernd | |
dc.creator.author | Yeung, Ming W. | |
dc.creator.author | Zhao, Max | |
dc.creator.author | Zhu, Na | |
dc.creator.author | Zschocke, Johannes | |
dc.creator.author | Mundlos, Stefan | |
dc.creator.author | Horn, Denise | |
dc.creator.author | Krawitz, Peter M. | |
cristin.unitcode | 185,52,13,0 | |
cristin.unitname | Senter for medisinsk etikk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 1711376 | |
dc.identifier.bibliographiccitation | info: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.jtitle | Genetics in Medicine | |
dc.identifier.volume | 21 | |
dc.identifier.issue | 12 | |
dc.identifier.startpage | 2807 | |
dc.identifier.endpage | 2814 | |
dc.identifier.doi | https://doi.org/10.1038/s41436-019-0566-2 | |
dc.identifier.urn | URN:NBN:no-78850 | |
dc.type.document | Tidsskriftartikkel | en_US |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1098-3600 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/75783/1/PEDIA_prioritization%2Bof%2Bexome%2Bdata%2Bby%2Bimage%2Banalysis.pdf | |
dc.type.version | PublishedVersion |
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