Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

IntroductionA trio analysis refers to the strategy of exome or genome sequencing of DNA from a patient, as well as parents, in order to identify the genetic cause of a disorder or syndrome.MethodsDuring the last 10 years, we have successfully applied exome or genome sequencing and performed trio ana...

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Main Authors: Helena Malmgren, Malin Kvarnung, Peter Gustafsson, Britt-Marie Anderlid, Cecilia Arthur, Jonas Carlsten, Karl De Geer, Emma Ehn, Giedre Grigelioniené, Anna Hammarsjö, Hafdis T. Helgadottir, Maritta Hellström-Pigg, Erik Iwarsson, Ekaterina Kuchinskaya, Hillevi Lindelöf, Maria Mannila, Daniel Nilsson, Maria Pettersson, Eva Rudd, Ellika Sahlin, Bianca Tesi, Emma Tham, Håkan Thonberg, Eini Westenius, Johanna Winberg, Max Winerdal, Magnus Nordenskjöld, Maria Johansson-Soller, Valtteri Wirta, Ann Nordgren, Anna Lindstrand, Kristina Lagerstedt-Robinson
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
trio analysis
exome
genome
syndrome
de novo
NDD
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1580879/full
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