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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Genomics
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
Aiheet:
Article
Linkit: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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