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Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment

Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Konnick, Eric Q., Pritchard, Colin C.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5050638/
https://ncbi.nlm.nih.gov/pubmed/27716394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0350-8
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