Parental somatic mosaicism for CNV deletions – a need for more sensitive and precise detection methods in clinical diagnostics settings

To further assess the scale and level of parental somatic mosaicism, we queried the CMA database at Baylor Genetics. We selected 50 unrelated families where clinically relevant apparent de novo CNV-deletions were found in the affected probands. Parental blood samples screening using deletion junctio...

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Détails bibliographiques
Publié dans:Genomics
Auteurs principaux: Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Wilson, Theresa A., Rosenfeld, Jill A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Breman, Amy, Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Bi, Weimin, Stankiewicz, Pawel
Format: Artigo
Langue:Inglês
Publié: 2020
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7363577/
https://ncbi.nlm.nih.gov/pubmed/32387503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2020.05.003
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