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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2025-06-01
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| author | Helena Malmgren Helena Malmgren Malin Kvarnung Malin Kvarnung Peter Gustafsson Peter Gustafsson Britt-Marie Anderlid Britt-Marie Anderlid Cecilia Arthur Cecilia Arthur Jonas Carlsten Jonas Carlsten Karl De Geer Karl De Geer Emma Ehn Emma Ehn Giedre Grigelioniené Giedre Grigelioniené Anna Hammarsjö Anna Hammarsjö Hafdis T. Helgadottir Hafdis T. Helgadottir Maritta Hellström-Pigg Maritta Hellström-Pigg Erik Iwarsson Erik Iwarsson Ekaterina Kuchinskaya Ekaterina Kuchinskaya Hillevi Lindelöf Hillevi Lindelöf Maria Mannila Maria Mannila Daniel Nilsson Daniel Nilsson Maria Pettersson Maria Pettersson Eva Rudd Eva Rudd Ellika Sahlin Ellika Sahlin Bianca Tesi Bianca Tesi Emma Tham Emma Tham Håkan Thonberg Håkan Thonberg Eini Westenius Eini Westenius Johanna Winberg Johanna Winberg Max Winerdal Max Winerdal Magnus Nordenskjöld Magnus Nordenskjöld Maria Johansson-Soller Maria Johansson-Soller Valtteri Wirta Valtteri Wirta Ann Nordgren Ann Nordgren Anna Lindstrand Anna Lindstrand Kristina Lagerstedt-Robinson Kristina Lagerstedt-Robinson |
| author_facet | Helena Malmgren Helena Malmgren Malin Kvarnung Malin Kvarnung Peter Gustafsson Peter Gustafsson Britt-Marie Anderlid Britt-Marie Anderlid Cecilia Arthur Cecilia Arthur Jonas Carlsten Jonas Carlsten Karl De Geer Karl De Geer Emma Ehn Emma Ehn Giedre Grigelioniené Giedre Grigelioniené Anna Hammarsjö Anna Hammarsjö Hafdis T. Helgadottir Hafdis T. Helgadottir Maritta Hellström-Pigg Maritta Hellström-Pigg Erik Iwarsson Erik Iwarsson Ekaterina Kuchinskaya Ekaterina Kuchinskaya Hillevi Lindelöf Hillevi Lindelöf Maria Mannila Maria Mannila Daniel Nilsson Daniel Nilsson Maria Pettersson Maria Pettersson Eva Rudd Eva Rudd Ellika Sahlin Ellika Sahlin Bianca Tesi Bianca Tesi Emma Tham Emma Tham Håkan Thonberg Håkan Thonberg Eini Westenius Eini Westenius Johanna Winberg Johanna Winberg Max Winerdal Max Winerdal Magnus Nordenskjöld Magnus Nordenskjöld Maria Johansson-Soller Maria Johansson-Soller Valtteri Wirta Valtteri Wirta Ann Nordgren Ann Nordgren Anna Lindstrand Anna Lindstrand Kristina Lagerstedt-Robinson Kristina Lagerstedt-Robinson |
| author_sort | Helena Malmgren |
| collection | DOAJ |
| description | 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 analysis for 1,000 patients.ResultsOverall, 39% of the patients were diagnosed, with the detection of causative variant(s). The variants were located in 308 different genes. Autosomal dominant de novo variants were detected in 46% of the solved cases. Detection rates were highest in patients with a syndromic neurodevelopmental disorder (46%) and in patients with known consanguinity (59%). Even for patients previously analyzed as singletons, using a pre-defined gene panel, a consecutive trio analysis resulted in the detection of a causative variant in 30%.DiscussionA major advantage of trio analysis is the immediate identification of de novo variants as well as confirmation of compound heterozygosity. Additionally, inherited variants from a healthy parent can be dismissed as non-disease causing. The trio strategy enables analysis of a high number of genes–or even the whole genome–simultaneously. The strengths of a trio analysis, in combination with analysis of genome sequence data, allows for the detection of a wide range of genetic aberrations. This enables a high diagnostic yield, even in previously analyzed patients. Our current protocol for trio analysis is based on genome sequencing data, which allows for simultaneous detection of single nucleotide variants, insertion/deletions, structural variants, expanded short tandem repeats, as well as a copy number analysis corresponding to an array-CGH, and analysis regarding SMN1 gene copies. |
| format | Article |
| id | doaj-art-9dbb059cf5aa4b4da4781afdbe3737a1 |
| institution | OA Journals |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj-art-9dbb059cf5aa4b4da4781afdbe3737a12025-08-20T02:36:59ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-06-011610.3389/fgene.2025.15808791580879Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical settingHelena Malmgren0Helena Malmgren1Malin Kvarnung2Malin Kvarnung3Peter Gustafsson4Peter Gustafsson5Britt-Marie Anderlid6Britt-Marie Anderlid7Cecilia Arthur8Cecilia Arthur9Jonas Carlsten10Jonas Carlsten11Karl De Geer12Karl De Geer13Emma Ehn14Emma Ehn15Giedre Grigelioniené16Giedre Grigelioniené17Anna Hammarsjö18Anna Hammarsjö19Hafdis T. Helgadottir20Hafdis T. Helgadottir21Maritta Hellström-Pigg22Maritta Hellström-Pigg23Erik Iwarsson24Erik Iwarsson25Ekaterina Kuchinskaya26Ekaterina Kuchinskaya27Hillevi Lindelöf28Hillevi Lindelöf29Maria Mannila30Maria Mannila31Daniel Nilsson32Daniel Nilsson33Maria Pettersson34Maria Pettersson35Eva Rudd36Eva Rudd37Ellika Sahlin38Ellika Sahlin39Bianca Tesi40Bianca Tesi41Emma Tham42Emma Tham43Håkan Thonberg44Håkan Thonberg45Eini Westenius46Eini Westenius47Johanna Winberg48Johanna Winberg49Max Winerdal50Max Winerdal51Magnus Nordenskjöld52Magnus Nordenskjöld53Maria Johansson-Soller54Maria Johansson-Soller55Valtteri Wirta56Valtteri Wirta57Ann Nordgren58Ann Nordgren59Anna Lindstrand60Anna Lindstrand61Kristina Lagerstedt-Robinson62Kristina Lagerstedt-Robinson63Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenScience for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenGenomic Medicine Centre Karolinska, Karolinska University Hospital, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SwedenIntroductionA 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 analysis for 1,000 patients.ResultsOverall, 39% of the patients were diagnosed, with the detection of causative variant(s). The variants were located in 308 different genes. Autosomal dominant de novo variants were detected in 46% of the solved cases. Detection rates were highest in patients with a syndromic neurodevelopmental disorder (46%) and in patients with known consanguinity (59%). Even for patients previously analyzed as singletons, using a pre-defined gene panel, a consecutive trio analysis resulted in the detection of a causative variant in 30%.DiscussionA major advantage of trio analysis is the immediate identification of de novo variants as well as confirmation of compound heterozygosity. Additionally, inherited variants from a healthy parent can be dismissed as non-disease causing. The trio strategy enables analysis of a high number of genes–or even the whole genome–simultaneously. The strengths of a trio analysis, in combination with analysis of genome sequence data, allows for the detection of a wide range of genetic aberrations. This enables a high diagnostic yield, even in previously analyzed patients. Our current protocol for trio analysis is based on genome sequencing data, which allows for simultaneous detection of single nucleotide variants, insertion/deletions, structural variants, expanded short tandem repeats, as well as a copy number analysis corresponding to an array-CGH, and analysis regarding SMN1 gene copies.https://www.frontiersin.org/articles/10.3389/fgene.2025.1580879/fulltrio analysisexomegenomesyndromede novoNDD |
| spellingShingle | Helena Malmgren Helena Malmgren Malin Kvarnung Malin Kvarnung Peter Gustafsson Peter Gustafsson Britt-Marie Anderlid Britt-Marie Anderlid Cecilia Arthur Cecilia Arthur Jonas Carlsten Jonas Carlsten Karl De Geer Karl De Geer Emma Ehn Emma Ehn Giedre Grigelioniené Giedre Grigelioniené Anna Hammarsjö Anna Hammarsjö Hafdis T. Helgadottir Hafdis T. Helgadottir Maritta Hellström-Pigg Maritta Hellström-Pigg Erik Iwarsson Erik Iwarsson Ekaterina Kuchinskaya Ekaterina Kuchinskaya Hillevi Lindelöf Hillevi Lindelöf Maria Mannila Maria Mannila Daniel Nilsson Daniel Nilsson Maria Pettersson Maria Pettersson Eva Rudd Eva Rudd Ellika Sahlin Ellika Sahlin Bianca Tesi Bianca Tesi Emma Tham Emma Tham Håkan Thonberg Håkan Thonberg Eini Westenius Eini Westenius Johanna Winberg Johanna Winberg Max Winerdal Max Winerdal Magnus Nordenskjöld Magnus Nordenskjöld Maria Johansson-Soller Maria Johansson-Soller Valtteri Wirta Valtteri Wirta Ann Nordgren Ann Nordgren Anna Lindstrand Anna Lindstrand Kristina Lagerstedt-Robinson Kristina Lagerstedt-Robinson Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting Frontiers in Genetics trio analysis exome genome syndrome de novo NDD |
| title | Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| title_full | Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| title_fullStr | Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| title_full_unstemmed | Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| title_short | Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| title_sort | diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting |
| topic | trio analysis exome genome syndrome de novo NDD |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1580879/full |
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