A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Christopher M. Watson; Laura A. Crinnion; Sally M. Harrison; Carolina Lascelles; Agne Antanaviciute; Ian M. Carr; David T. Bonthron; Eamonn Sheridan

doi:10.1371/journal.pone.0157075

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Peer-reviewed

Research Article

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Christopher M. Watson ,

* E-mail: c.m.watson@leeds.ac.uk

Affiliations Yorkshire Regional Genetics Service, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom, School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom

http://orcid.org/0000-0003-2371-1844

⨯
Laura A. Crinnion,

Affiliations Yorkshire Regional Genetics Service, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom, School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
Sally M. Harrison,

Affiliation School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
Carolina Lascelles,

Affiliation School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
Agne Antanaviciute,

Affiliation School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
Ian M. Carr,

Affiliation School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
David T. Bonthron,

Affiliations Yorkshire Regional Genetics Service, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom, School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯
Eamonn Sheridan

Affiliations Yorkshire Regional Genetics Service, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom, School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, LS9 7TF, United Kingdom
⨯

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Christopher M. Watson,
Laura A. Crinnion,
Sally M. Harrison,
Carolina Lascelles,
Agne Antanaviciute,
Ian M. Carr,
David T. Bonthron,
Eamonn Sheridan

Published: June 7, 2016
https://doi.org/10.1371/journal.pone.0157075

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Genome sequencing
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Nucleotide sequencing
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