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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Библиографические подробности
Опубликовано в: :Genomics
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2020
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Article
Online-ссылка: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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