Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Yepez, VA; Gusic, M; Kopajtich, R; Mertes, C; Smith, NH; Alston, CL; Ban, R; Beblo, S; Berutti, R; Blessing, H; Ciara, E; Distelmaier, F; Freisinger, P; Haberle, J; Hayflick, SJ; Hempel, M; Itkis, YS; Kishita, Y; Klopstock, T; Krylova, TD; Lamperti, C; Lenz, D; Makowski, C; Mosegaard, S; Muller, MF; Munoz-Pujol, G; Nadel, A; Ohtake, A; Okazaki, Y; Procopio, E; Schwarzmayr, T; Smet, J; Staufner, C; Stenton, SL; Strom, TM; Terrile, C; Tort, F; Van Coster, R; Vanlander, A; Wagner, M; Xu, MT; Fang, F; Ghezzi, D; Mayr, JA; Piekutowska-Abramczuk, D; Ribes, A; Rotig, A; Taylor, RW; Wortmann, SB; Murayama, K; Meitinger, T; Gagneur, J; Prokisch, H

Gagneur, J; Prokisch, H (通讯作者),Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany.;Gagneur, J (通讯作者),Tech Univ Munich, Dept Informat, Garching, Germany.;Prokisch, H (通讯作者),Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany.;Prokisch, H (通讯作者),Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Pediat Neurol, Beijing, Peoples R China.;Gagneur, J (通讯作者),Helmholtz Zentrum Munchen, Inst Computat Biol, Neuherberg, Germany.

GENOME MEDICINE, 2022; 14 (1):

Abstract

Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder w......

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