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Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

PURPOSE: We applied whole genome sequencing to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations, to discover novel genic disruptions. METHODS: We applied SV calling programs CREST, Break Dancer, SV-STAT and CGAP-CNV, and developed an annotative f...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Ritter, Deborah I., Haines, Katherine, Cheung, Hannah, Davis, Caleb F., Lau, Ching C., Berg, Jonathan S., Brown, Chester W., Thompson, Patrick A., Gibbs, Richard, Wheeler, David A., Plon, Sharon E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496310/
https://ncbi.nlm.nih.gov/pubmed/25569436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.189
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