{"entity": "publication", "iuid": "b382fcbb325345cdb2eeec2cbb6b2d78", "timestamp": "2026-09-30T22:58:35.505Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b382fcbb325345cdb2eeec2cbb6b2d78.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b382fcbb325345cdb2eeec2cbb6b2d78"}}, "title": "Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.", "authors": [{"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Kvarnung", "given": "Malin", "initials": "M"}, {"family": "Gustafsson", "given": "Peter", "initials": "P"}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Arthur", "given": "Cecilia", "initials": "C"}, {"family": "Carlsten", "given": "Jonas", "initials": "J"}, {"family": "De Geer", "given": "Karl", "initials": "K"}, {"family": "Ehn", "given": "Emma", "initials": "E"}, {"family": "Grigelionien\u00e9", "given": "Giedre", "initials": "G"}, {"family": "Hammarsj\u00f6", "given": "Anna", "initials": "A"}, {"family": "Helgadottir", "given": "Hafdis T", "initials": "HT"}, {"family": "Hellstr\u00f6m-Pigg", "given": "Maritta", "initials": "M"}, {"family": "Iwarsson", "given": "Erik", "initials": "E"}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E"}, {"family": "Lindel\u00f6f", "given": "Hillevi", "initials": "H"}, {"family": "Mannila", "given": "Maria", "initials": "M"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Pettersson", "given": "Maria", "initials": "M"}, {"family": "Rudd", "given": "Eva", "initials": "E"}, {"family": "Sahlin", "given": "Ellika", "initials": "E"}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Tham", "given": "Emma", "initials": "E"}, {"family": "Thonberg", "given": "H\u00e5kan", "initials": "H"}, {"family": "Westenius", "given": "Eini", "initials": "E"}, {"family": "Winberg", "given": "Johanna", "initials": "J"}, {"family": "Winerdal", "given": "Max", "initials": "M"}, {"family": "Nordenskj\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "Johansson-Soller", "given": "Maria", "initials": "M"}, {"family": "Wirta", "given": "Valtteri", "initials": "V"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Lindstrand", "given": "Anna", "initials": "A"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}], "type": "journal article", "published": "2025-06-20", "journal": {"title": "Front Genet", "issn": "1664-8021", "volume": "16", "pages": "1580879", "issn-l": "1664-8021"}, "abstract": "A 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.\n\nDuring the last 10 years, we have successfully applied exome or genome sequencing and performed trio analysis for 1,000 patients.\n\nOverall, 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%.\n\nA 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.", "doi": "10.3389/fgene.2025.1580879", "pmid": "40620702", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12226303"}, {"db": "pii", "key": "1580879"}], "notes": [], "created": "2026-09-23T09:12:24.764Z", "modified": "2026-09-23T09:12:24.812Z"}