Additional file 1 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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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.
提供机构：
Piekutowska-Abramczuk, Dorota; Smith, Nicholas H.; Beblo, Skadi; Vanlander, Arnaud; Ribes, Antonia; Meitinger, Thomas; Rötig, Agnès; Prokisch, Holger; Nadel, Agnieszka; Gagneur, Julien; Wortmann, Saskia B.; Yépez, Vicente A.; Kishita, Yoshihito; Okazaki, Yasushi; Terrile, Caterina; Fang, Fang; Tort, Frederic; Kopajtich, Robert; Mertes, Christian; Krylova, Tatiana D.; Itkis, Yulia S.; Lamperti, Costanza; Mosegaard, Signe; Taylor, Robert W.; Mayr, Johannes A.; Ciara, Elżbieta; Procopio, Elena; Strom, Tim M.; Ghezzi, Daniele; Staufner, Christian; Gusic, Mirjana; Berutti, Riccardo; Smet, Joél; Ban, Rui; Müller, Michaela F.; Ohtake, Akira; Xu, Manting; Häberle, Johannes; Van Coster, Rudy; Hayflick, Susan J.; Blessing, Holger; Muñoz-Pujol, Gerard; Schwarzmayr, Thomas; Murayama, Kei; Alston, Charlotte L.; Distelmaier, Felix; Freisinger, Peter; Klopstock, Thomas; Stenton, Sarah L.; Wagner, Matias; Makowski, Christine; Hempel, Maja; Lenz, Dominic
创建时间：
2022-04-05
