Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

A.M. Mcinerney-Leo; J.E. Harris; P.J. Leo; M.S. Marshall; B. Gardiner; E. Kinning; H.Y. Leong; Fiona Mckenzie; W.P. Ong; J. Vodopiutz; C. Wicking; M.A. Brown; A. Zankl; E.L. Duncan

doi:10.1111/cge.12550

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

A.M. Mcinerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, Fiona Mckenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl, E.L. Duncan

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Abstract

© 2014 John Wiley & Sons A/S. Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency 99%). Costs for consumables, laboratory processing and bioinformatic analysis were

Original language	English
Pages (from-to)	550-557
Journal	Clinical Genetics
Volume	88
Issue number	6
Early online date	17 Feb 2015
DOIs	https://doi.org/10.1111/cge.12550
Publication status	Published - Dec 2015

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Mcinerney-Leo, A. M., Harris, J. E., Leo, P. J., Marshall, M. S., Gardiner, B., Kinning, E., Leong, H. Y., Mckenzie, F., Ong, W. P., Vodopiutz, J., Wicking, C., Brown, M. A., Zankl, A., & Duncan, E. L. (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88(6), 550-557. https://doi.org/10.1111/cge.12550

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title = "Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies",

abstract = "{\textcopyright} 2014 John Wiley & Sons A/S. Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency 99%). Costs for consumables, laboratory processing and bioinformatic analysis were",

author = "A.M. Mcinerney-Leo and J.E. Harris and P.J. Leo and M.S. Marshall and B. Gardiner and E. Kinning and H.Y. Leong and Fiona Mckenzie and W.P. Ong and J. Vodopiutz and C. Wicking and M.A. Brown and A. Zankl and E.L. Duncan",

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Mcinerney-Leo, AM, Harris, JE, Leo, PJ, Marshall, MS, Gardiner, B, Kinning, E, Leong, HY, Mckenzie, F, Ong, WP, Vodopiutz, J, Wicking, C, Brown, MA, Zankl, A & Duncan, EL 2015, 'Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies', Clinical Genetics, vol. 88, no. 6, pp. 550-557. https://doi.org/10.1111/cge.12550

TY - JOUR

T1 - Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

AU - Mcinerney-Leo, A.M.

AU - Harris, J.E.

AU - Leo, P.J.

AU - Marshall, M.S.

AU - Gardiner, B.

AU - Kinning, E.

AU - Leong, H.Y.

AU - Mckenzie, Fiona

AU - Ong, W.P.

AU - Vodopiutz, J.

AU - Wicking, C.

AU - Brown, M.A.

AU - Zankl, A.

AU - Duncan, E.L.

PY - 2015/12

Y1 - 2015/12

N2 - © 2014 John Wiley & Sons A/S. Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency 99%). Costs for consumables, laboratory processing and bioinformatic analysis were

AB - © 2014 John Wiley & Sons A/S. Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency 99%). Costs for consumables, laboratory processing and bioinformatic analysis were

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DO - 10.1111/cge.12550

M3 - Article

C2 - 25492405

SN - 0009-9163

VL - 88

SP - 550

EP - 557

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

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