Efficient reinterpretation of rare disease cases using Exomiser by Letizia Vestito, Julius O. B. Jacobsen, Susan Walker, Valentina Cipriani, Nomi L. Harris, Melissa A. Haendel, Christopher J. Mungall, Peter Robinson, Damian Smedley

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

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

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

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Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data by Anando Sen, Victoria Hedley, Eva Degraeuwe, Steven Hirschfeld, Ronald Cornet, Ramona Walls, John Owen, Peter N. Robinson, Edward G. Neilan, Thomas Liener, Giovanni Nisato, Neena Modi, Simon Woodworth, Avril Palmeri, Ricarda Gaentzsch, Melissa Walsh, Teresa Berkery, Joanne Lee, Laura Persijn, Kasey Baker, Kristina An Haack, Sonia Segovia Simon, Julius O. B. Jacobsen, Giorgio Reggiardo, Melissa A. Kirwin, Jessie Trueman, Claudia Pansieri, Donato Bonifazi, Sinéad Nally, Fedele Bonifazi, Rebecca Leary, Volker Straub

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

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project by Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

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