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

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

doi:10.1371/journal.pone.0169935

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Open Access

Peer-reviewed

Research Article

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

Constantia Aristidou,

Affiliations Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Costas Koufaris,

Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
⨯
Athina Theodosiou,

Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
⨯
Mads Bak,

Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark
⨯
Mana M. Mehrjouy,

Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark
⨯
Farkhondeh Behjati,

Affiliation Cytogenetics Unit, University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran, Iran
⨯
George Tanteles,

Affiliation Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
⨯
Violetta Christophidou-Anastasiadou,

Affiliation Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia, Cyprus
⨯
Niels Tommerup,

Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark
⨯
Carolina Sismani

* E-mail: csismani@cing.ac.cy

Affiliations Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

http://orcid.org/0000-0002-9296-8347

⨯

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

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

Published: January 10, 2017
https://doi.org/10.1371/journal.pone.0169935

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Chromosomal translocations
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Polymerase chain reaction
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Gene disruption
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