Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Familial apparently balanced translocations (ABTs) segregating with discordant phenotypes are extremely challenging for interpretation and counseling due to the scarcity of publications and lack of routine techniques for quick investigation. Recently, next generation sequencing has emerged as an eff...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225008/
https://ncbi.nlm.nih.gov/pubmed/28072833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169935
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