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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:PLoS One
Κύριοι συγγραφείς: Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2017
Θέματα:
Research Article
Διαθέσιμο Online: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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