Article
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome medicine - 5 Apr 2022
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
Abstract excerpt
BACKGROUND: Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, collection of additional biopsies and establishment of...
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