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Article

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

PloS one - 1 Jan 2017

Aristidou Constantia, Koufaris Costas, Theodosiou Athina, Bak Mads, Mehrjouy Mana M, Behjati Farkhondeh, Tanteles George, Christophidou-Anastasiadou Violetta, Tommerup Niels, Sismani Carolina

Abstract excerpt

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 efficacious methodology for precise detection of translocation breakpoints. However, studies so far have mainly focused...

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PMID: 28072833
DOI: 10.1371/journal.pone.0169935
PMCID: PMC5225008

Genes

CADPS2

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