Additional file 1 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Additional file 1: Table S1. Sample annotation. Table S2. Extended summary of RNA-seq diagnosed cases. Table S3. Summary of candidate genes pinpointed via RNA-seq. Table S4. Summary of WES-diagnosed cases with an RNA-defect. Table S5. Recalled expression outliers at different mean and dispersion.
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| creator | Yépez, Vicente A. Gusic, Mirjana Kopajtich, Robert Mertes, Christian Smith, Nicholas H. Alston, Charlotte L. Ban, Rui Beblo, Skadi Berutti, Riccardo Blessing, Holger Ciara, Elżbieta Distelmaier, Felix Freisinger, Peter Häberle, Johannes Hayflick, Susan J. Hempel, Maja Itkis, Yulia S. Kishita, Yoshihito Klopstock, Thomas Krylova, Tatiana D. Lamperti, Costanza Lenz, Dominic Makowski, Christine Mosegaard, Signe Müller, Michaela F. Muñoz-Pujol, Gerard Nadel, Agnieszka Ohtake, Akira Okazaki, Yasushi Procopio, Elena Schwarzmayr, Thomas Smet, Joél Staufner, Christian Stenton, Sarah L. Strom, Tim M. Terrile, Caterina Tort, Frederic Van Coster, Rudy Vanlander, Arnaud Wagner, Matias Xu, Manting Fang, Fang Ghezzi, Daniele Mayr, Johannes A. Piekutowska-Abramczuk, Dorota Ribes, Antonia Rötig, Agnès Taylor, Robert W. Wortmann, Saskia B. Murayama, Kei Meitinger, Thomas Gagneur, Julien Prokisch, Holger |
| description | Additional file 1: Table S1. Sample annotation. Table S2. Extended summary of RNA-seq diagnosed cases. Table S3. Summary of candidate genes pinpointed via RNA-seq. Table S4. Summary of WES-diagnosed cases with an RNA-defect. Table S5. Recalled expression outliers at different mean and dispersion. |
| doi_str_mv | 10.6084/m9.figshare.19518422 |
| format | Dataset |
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Sample annotation. Table S2. Extended summary of RNA-seq diagnosed cases. Table S3. Summary of candidate genes pinpointed via RNA-seq. Table S4. Summary of WES-diagnosed cases with an RNA-defect. Table S5. Recalled expression outliers at different mean and dispersion.</abstract><pub>figshare</pub><doi>10.6084/m9.figshare.19518422</doi><oa>free_for_read</oa></addata></record> |
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| identifier | DOI: 10.6084/m9.figshare.19518422 |
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| subjects | FOS: Biological sciences Genetics |
| title | Additional file 1 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics |
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