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pro vyhledávání: '"Dillenn Terumalai"'
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22a0ecd6ab22544aaa90fbfd38d1a39
https://doi.org/10.1101/2023.01.11.22283790
https://doi.org/10.1101/2023.01.11.22283790