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Analysis of sperm can uncover rare genetic variants

 Last Update: 2022-03-04
 Source: Internet
 Author: User

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Researchers at Karolinska Institutet analyzed blood and sperm samples from healthy parents to children with genetic syndromes and found that germline mosaicism is underestimated as a cause of syndromes with high levels of genetic variation in sperm.

Like the mosaic piles that cover a bathroom floor, our human cells can look and behave differently

"Understanding the mechanisms behind rare diseases is key to establishing appropriate care, such as monitoring and treatment

Original search:

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

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