Article
Recommendations for whole genome sequencing in diagnostics for rare diseases.
European journal of human genetics : EJHG - 1 Sept 2022
Souche Erika, Beltran Sergi, Brosens Erwin, Belmont John W, Fossum Magdalena, Riess Olaf, Gilissen Christian, Ardeshirdavani Amin, Houge Gunnar, van Gijn Marielle, Clayton-Smith Jill, Synofzik Matthis, de Leeuw Nicole, Deans Zandra C, Dincer Yasemin, Eck Sebastian H, van der Crabben Saskia, Balasubramanian Meena, Graessner Holm, Sturm Marc, Firth Helen, Ferlini Alessandra, Nabbout Rima, De Baere Elfride, Liehr Thomas, Macek Milan, Matthijs Gert, Scheffer Hans, Bauer Peter, Yntema Helger G, Weiss Marjan M
Abstract excerpt
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels))....
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