Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing

Rikke Christensen; Signe Væth; Kasper Thorsen; Kristiansen Rikke; Morten Dunø; Uffe Birk Jensen

Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing

Rikke Christensen, Signe Væth, Kasper Thorsen, Kristiansen Rikke, Morten Dunø, Uffe Birk Jensen

Publikation: Konferencebidrag › Poster › Forskning

Abstract

Background: Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological diseases. Today, more than 70 CMT related genes are known to cause inherited neuropathy. The diagnostic strategy in most laboratories is based on Sanger-sequencing of few genes. In our patient cohort, Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients.
Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.
Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.
Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice.

Originalsprog	Engelsk
Publikationsdato	19 maj 2014
Status	Udgivet - 19 maj 2014
Begivenhed	Next Generation Sequencing Data Congress - London, Storbritannien Varighed: 19 maj 2014 → 20 maj 2014

Konference

Konference	Next Generation Sequencing Data Congress
Land/Område	Storbritannien
By	London
Periode	19/05/2014 → 20/05/2014

Citationsformater

@conference{cfb4bfd363c94a528bf0f92ae6f5595a,

title = "Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing",

abstract = "Background: Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological diseases. Today, more than 70 CMT related genes are known to cause inherited neuropathy. The diagnostic strategy in most laboratories is based on Sanger-sequencing of few genes. In our patient cohort, Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients. Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice. ",

author = "Rikke Christensen and Signe V{\ae}th and Kasper Thorsen and Kristiansen Rikke and Morten Dun{\o} and Jensen, {Uffe Birk}",

year = "2014",

month = may,

day = "19",

language = "English",

note = "Next Generation Sequencing Data Congress ; Conference date: 19-05-2014 Through 20-05-2014",

}

TY - CONF

T1 - Charcot-Marie-Tooth disease: The development of a diagnostic platform using next generation sequencing

AU - Christensen, Rikke

AU - Væth, Signe

AU - Thorsen, Kasper

AU - Rikke, Kristiansen

AU - Dunø, Morten

AU - Jensen, Uffe Birk

PY - 2014/5/19

Y1 - 2014/5/19

N2 - Background: Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological diseases. Today, more than 70 CMT related genes are known to cause inherited neuropathy. The diagnostic strategy in most laboratories is based on Sanger-sequencing of few genes. In our patient cohort, Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients. Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice.

AB - Background: Charcot-Marie-Tooth Disease (CMT) is one of the most common inherited neurological diseases. Today, more than 70 CMT related genes are known to cause inherited neuropathy. The diagnostic strategy in most laboratories is based on Sanger-sequencing of few genes. In our patient cohort, Sanger sequencing of 4 genes have led to a diagnosis in approximately 30% of the patients. Aims: 1) Development of a targeted NGS platform containing 63 genes that currently are found to be associated with CMT. 2) Analysis of the increased diagnostic yield using this platform to analyze 200 CMT samples previously analyzed using Sanger sequencing without identification of a disease causing mutation.Materials and Methods: Libraries for 200 patient samples obtained for CMT diagnostics were prepared using Illumina Truseq and target enrichment using SeqCap EZ Choise Library (Nimblegen). The libraries were sequenced on a Hiseq2000. Data analysis was performed using CLC Genomics Workbench v7.0.3.Results and Conclusion: Preliminary results indicate an increased diagnostic yield when analyzing 63 CMT associated genes compared to previous Sanger sequencing of 4 genes. The introduction of NGS in CMT diagnostics significantly improves the current practice.

M3 - Poster

T2 - Next Generation Sequencing Data Congress

Y2 - 19 May 2014 through 20 May 2014

ER -