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Genome sequencing i...
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
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- Lindstrand, Anna (author)
- Karolinska Institutet
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- Ek, Marlene (author)
- Karolinska Institutet
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- Kvarnung, Malin (author)
- Karolinska Institutet
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- Anderlid, Britt-Marie (author)
- Karolinska Institutet
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- Bjoerck, Erik (author)
- Karolinska Institutet
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- Carlsten, Jonas (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Eisfeldt, Jesper (author)
- Karolinska Institutet
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- Grigelioniene, Giedre (author)
- Karolinska Institutet
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- Gustavsson, Peter (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Hammarsjoe, Anna (author)
- Karolinska Institutet
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- Helgadottir, Hafdis T. (author)
- Karolinska Institutet
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- Hellstroem-Pigg, Maritta (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Kuchinskaya, Ekaterina (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Lagerstedt-Robinson, Kristina (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Levin, Lars-Åke (author)
- Linköpings universitet,Avdelningen för samhälle och hälsa,Medicinska fakulteten
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- Lieden, Agne (author)
- Karolinska Institutet
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- Lindeloef, Hillevi (author)
- Karolinska Institutet
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- Malmgren, Helena (author)
- Karolinska Institutet
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- Nilsson, Daniel (author)
- Karolinska Institutet
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- Svensson, Eva (author)
- Karolinska Univ Hosp, Sweden
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- Paucar, Martin (author)
- Karolinska Institutet
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- Sahlin, Ellika (author)
- Karolinska Institutet
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- Tesi, Bianca (author)
- Karolinska Institutet
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- Tham, Emma (author)
- Karolinska Institutet
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- Winberg, Johanna (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Winerdal, Max (author)
- Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Wincent, Josephine (author)
- Karolinska Institutet
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- Soller, Maria Johansson (author)
- Karolinska Institutet
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- Pettersson, Maria (author)
- Karolinska Institutet
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- Nordgren, Ann (author)
- Karolinska Institutet
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(creator_code:org_t)
- ELSEVIER SCIENCE INC, 2022
- 2022
- English.
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In: Genetics in Medicine. - : ELSEVIER SCIENCE INC. - 1098-3600 .- 1530-0366. ; 24:11, s. 2296-2307
- Related links:
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
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- Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines in patients with ID/NDD: genome sequencing (GS) first (N = 100), GS as a secondary test (N = 129), or chromosomal microarray (CMA) with or without FMR1 analysis (N = 421). Results: The diagnostic yield was 35% (GS -first), 26% (GS as a secondary test), and 11% (CMA/FMR1). Notably, the age of diagnosis was delayed by 1 year when GS was performed as a secondary test and the cost per diagnosed individual was 36% lower with GS first than with CMA/FMR1. Furthermore, 91% of those with a negative result after CMA/FMR1 analysis (338 individuals) have not yet been referred for additional genetic testing and remain undiagnosed. Conclusion: Our findings strongly suggest that genome analysis outperforms other testing strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test in individuals with ID/NDD. GS is a sensitive, time-and cost-effective method that results in a confirmed molecular diagnosis in 35% of all referred patients. (c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Chromosomal microarray; Clinical diagnostics; FMR1 analysis; Genome sequencing; Intellectual disability
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Lindstrand, Anna
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Ek, Marlene
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Kvarnung, Malin
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Anderlid, Britt- ...
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Bjoerck, Erik
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Carlsten, Jonas
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show more...
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Eisfeldt, Jesper
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Grigelioniene, G ...
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Gustavsson, Pete ...
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Hammarsjoe, Anna
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Helgadottir, Haf ...
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Hellstroem-Pigg, ...
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Kuchinskaya, Eka ...
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Lagerstedt-Robin ...
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Levin, Lars-Åke
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Lieden, Agne
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Lindeloef, Hille ...
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Malmgren, Helena
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Nilsson, Daniel
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Svensson, Eva
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Paucar, Martin
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Sahlin, Ellika
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Tesi, Bianca
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Tham, Emma
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Winberg, Johanna
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Winerdal, Max
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Wincent, Josephi ...
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Soller, Maria Jo ...
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Pettersson, Mari ...
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Nordgren, Ann
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Genetics in Medi ...
- By the university
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Linköping University
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Karolinska Institutet