Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation Article Swipe
Wouter Steyaert
,
Lonneke Haer‐Wigman
,
Rolph Pfundt
,
Debby M.E.I. Hellebrekers
,
Marloes Steehouwer
,
Juliet E. Hampstead
,
Elke de Boer
,
Alexander P.A. Stegmann
,
Helger G. Yntema
,
Erik‐Jan Kamsteeg
,
Han G. Brunner
,
Alexander Hoischen
,
Christian Gilissen
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-2302399/v1
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-2302399/v1
We devised a new method (Chameleolyser) that accurately identifies single nucleotide variants (SNVs), copy number variants and ectopic gene conversion events in duplicated genomic regions using whole-exome sequencing (WES) data. Application to a cohort of 41,755 WES samples yielded 20,432 rare homozygous deletions and 2,529,791 rare SNVs, of which we can show that 338,084 are due to gene conversion events. None of the SNVs are detectable using regular analysis techniques. Validation by high-fidelity long-read sequencing in 20 samples confirmed >88% of called variants. Focusing on variation in known disease genes led to a direct molecular diagnosis in 25 previously undiagnosed patients. Our method can readably be applied to existing WES data.
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Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-2302399/v1
- https://www.researchsquare.com/article/rs-2302399/latest.pdf
- OA Status
- green
- Cited By
- 2
- References
- 31
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4310359163
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4310359163Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.21203/rs.3.rs-2302399/v1Digital Object Identifier
- Title
-
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variationWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
-
2022-11-29Full publication date if available
- Authors
-
Wouter Steyaert, Lonneke Haer‐Wigman, Rolph Pfundt, Debby M.E.I. Hellebrekers, Marloes Steehouwer, Juliet E. Hampstead, Elke de Boer, Alexander P.A. Stegmann, Helger G. Yntema, Erik‐Jan Kamsteeg, Han G. Brunner, Alexander Hoischen, Christian GilissenList of authors in order
- Landing page
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https://doi.org/10.21203/rs.3.rs-2302399/v1Publisher landing page
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https://www.researchsquare.com/article/rs-2302399/latest.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.researchsquare.com/article/rs-2302399/latest.pdfDirect OA link when available
- Concepts
-
Variation (astronomy), Exome sequencing, Evolutionary biology, Biology, Computational biology, Genetics, Mutation, Astrophysics, Gene, PhysicsTop concepts (fields/topics) attached by OpenAlex
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-
2Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
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31Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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