Speaker
Description
The clinical relevance of de novo structural variations (dnSVs) has become manifest, but dnSVs are often overlooked during routine genetic screening. To comprehensively assess their rate, characteristics, and clinical relevance, we analysed the whole-genome-sequencing data of 12,575 families with 13,703 probands with rare genetic diseases in the U.K. 100,000 Genomes Project. We identified 1,970 dnSVs where 12% of the probands have at least one SV. We observed a statistically significant association between parental age and the rate of dnSVs, in line with 67.7% of the phasable dnSVs arising from paternal gemmate. Surprisingly, we identified 156 complex dnSVs where 20% of them are potentially disease-causing variants. Our study highlights the importance of including dnSVs in rare disease genomic testing.
References
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| Keywords | Genomics |
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