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Preprint VersionCC BY V4.0, Open Access
Preprint
The abundance of harmful homozygous rare variants in children of consanguineous parents
Research Square, Vol.19 July 2023
Research Square Company
2023
Abstract
Here we show that the individuals born of the union between double first cousins (paternal and maternal) had 20 times more deleterious homozygous rare Single Nucleotide Variants (SNVs) than those who had unrelated parents. Furthermore, the children of first cousins had ten times, and the children of second cousins had two times more of these SNVs compared to those present in the offspring of unrelated parents. These results suggest that the offspring of closely related parents could have a 2 to 20 times higher risk for rare recessive diseases than the children of unrelated parents.
Details
- Title
- The abundance of harmful homozygous rare variants in children of consanguineous parents
- Authors
- Sankar Subramanian (Corresponding Author) - University of the Sunshine Coast, Queensland, Centre for Bioinnovation
- Publication details
- Research Square, Vol.19 July 2023
- Publisher
- Research Square Company
- Date published
- 2023
- DOI
- 10.21203/rs.3.rs-3169355/v1
- ISSN
- 2693-5015
- Copyright note
- This work is licensed under a Creative Commons Attribution 4.0 International License
- Organisation Unit
- School of Science, Technology and Engineering; Centre for Bioinnovation
- Language
- English
- Record Identifier
- 99743097402621
- Output Type
- Preprint
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