Interpretable prioritization of splice variants in diagnostic next-generation sequencing von Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

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Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI von Pekař, Matej, Jiravský, Otakar, Novák, Jan, Branny, Piotr, Balušík, Jakub, Daniš, Daniel, Hečko, Jan, Kantor, Marek, Prosecky, Robert, Blaha, Lubomir, Neuwirth, Radek

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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes von Carmody, Leigh C, Blau, Hannah, Danis, Daniel, Zhang, Xingman A, Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D, Robinson, Peter N

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HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis von Karlebach, Guy, Hansen, Peter, Veiga, Diogo F. T., Steinhaus, Robin, Danis, Daniel, Li, Sheng, Anczukow, Olga, Robinson, Peter N.

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Phenopacket-tools: Building and validating GA4GH Phenopackets von Danis, Daniel, Jacobsen, Julius O B, Wagner, Alex H, Groza, Tudor, Beckwith, Martha A, Rekerle, Lauren, Carmody, Leigh C, Reese, Justin, Hegde, Harshad, Ladewig, Markus S, Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L, Rambla, Jordi, Baudis, Michael, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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CT Evaluated Sarcopenia Signals: Shorter Survival for Small Cell Lung Cancer Patients von Pekarova, Anna, Pekar, Matej, Danis, Daniel, Novakova, Zuzana

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report von Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela

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Alternative splicing is coupled to gene expression in a subset of variably expressed genes von Karlebach, Guy, Steinhaus, Robin, Danis, Daniel, Devoucoux, Maeva, Anczuków, Olga, Sheynkman, Gloria, Seelow, Dominik, Robinson, Peter N.

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GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution von Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío G, Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter N

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing von Danis, Daniel, Jacobsen, Julius O B, Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J, Helbig, Ingo, Mungall, Christopher J, Beck, Christine R, Lee, Charles, Smedley, Damian, Robinson, Peter N

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Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery von Zhang, Xingmin Aaron, Yates, Amy, Vasilevsky, Nicole, Gourdine, J. P., Callahan, Tiffany J., Carmody, Leigh C., Danis, Daniel, Joachimiak, Marcin P., Ravanmehr, Vida, Pfaff, Emily R., Champion, James, Robasky, Kimberly, Xu, Hao, Fecho, Karamarie, Walton, Nephi A., Zhu, Richard L., Ramsdill, Justin, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., McDonald, Clement J., Vreeman, Daniel J., Peden, David B., Bennett, Tellen D., Feinstein, James A., Martin, Blake, Stefanski, Adrianne L., Hunter, Lawrence E., Chute, Christopher G., Robinson, Peter N.

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery von Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.

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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients von Danis, Daniel, Brennerova, Katarina, Skopkova, Martina, Kurdiova, Timea, Ukropec, Jozef, Stanik, Juraj, Kolnikova, Miriam, Gasperikova, Daniela

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GA4GH Phenopackets: A Practical Introduction von Ladewig, Markus S., Jacobsen, Julius O. B., Wagner, Alex H., Danis, Daniel, El Kassaby, Baha, Gargano, Michael, Groza, Tudor, Baudis, Michael, Steinhaus, Robin, Seelow, Dominik, Bechrakis, Nikolaos E., Mungall, Christopher J., Schofield, Paul N., Elemento, Olivier, Smith, Lindsay, McMurry, Julie A., Munoz‐Torres, Monica, Haendel, Melissa A., Robinson, Peter N.

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources von Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, Robinson, Peter N

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The Human Phenotype Ontology in 2021 von Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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Interpretable Clinical Genomics with a Likelihood Ratio Paradigm von Robinson, Peter N., Ravanmehr, Vida, Jacobsen, Julius O.B., Danis, Daniel, Zhang, Xingmin Aaron, Carmody, Leigh C., Gargano, Michael A., Thaxton, Courtney L., Karlebach, Guy, Reese, Justin, Holtgrewe, Manuel, Köhler, Sebastian, McMurry, Julie A., Haendel, Melissa A., Smedley, Damian

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Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization von Beckwith, Martha A., Danis, Daniel, Bridges, Yasemin, Jacobsen, Julius O.B., Smedley, Damian, Robinson, Peter N.

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Publisher Correction: Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI von Pekař, Matej, Jiravský, Otakar, Novák, Jan, Branny, Piotr, Balušík, Jakub, Daniš, Daniel, Hečko, Jan, Kantor, Marek, Prosecky, Robert, Blaha, Lubomir, Neuwirth, Radek

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Term-BLAST-like alignment tool for concept recognition in noisy clinical texts von Groza, Tudor, Wu, Honghan, Dinger, Marcel E, Danis, Daniel, Hilton, Coleman, Bagley, Anita, Davids, Jon R, Luo, Ling, Lu, Zhiyong, Robinson, Peter N

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