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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genomics
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa: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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