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The potential for next generation sequencing to characterise the genetic variation underlying nonsyndromic cleft lip and palate phenotypes

The potential for next generation sequencing to characterise the genetic variation underlying nonsyndromic cleft lip and palate phenotypes
The potential for next generation sequencing to characterise the genetic variation underlying nonsyndromic cleft lip and palate phenotypes
Introduction: Next-generation sequencing is revolutionising the study of genetic variation and its role in disease. Individual DNA samples can now be sequenced cost-effectively enabling analysis of the complete spectrum of genetic variation. This technology has the potential to contribute significantly to the understanding of non-syndromic cleft lip and/or palate. This condition occurs with relatively high frequency and only a proportion of the underlying genetic causal factors have been identified. Many of the genes implicated have been found through genome-wide association studies but further progress is limited because these approaches consider only common genetic variants and neglect rarer variations. Because many of the causal genetic variants remain unknown, the role of gene-environment and gene-gene interaction is difficult to characterise. The identification of novel, low frequency, variants will provide new insights into the biological mechanisms and pathways involved in the condition. Sequence-based analysis will also be invaluable for fine mapping causal variants in the larger regions already identified by linkage and association studies for which positive identification of causal genetic variants has proven difficult. This review considers the available evidence for the genes involved and current understanding of how genetic variation interacts with environmental factors known to influence risk. Only by characterising the underlying genetic factors will the effort to understand gene-environment interaction and underlying functional processes be successful.

Conclusion: Success with next-generation sequencing will lead to improvements in prediction, prevention, and treatment for cleft lip and palate patients.
1-6
Collins, A.
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Arias, L.
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Pengelly, R.
af97c0c1-b568-415c-9f59-1823b65be76d
Martinez, I.
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Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Arias, L.
eee5f985-3409-4ca1-96a4-f1d4308b38c5
Pengelly, R.
af97c0c1-b568-415c-9f59-1823b65be76d
Martinez, I.
9520edc4-06c3-4fcd-b038-9da5d1148025
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9

Collins, A., Arias, L., Pengelly, R., Martinez, I. and Ennis, S. (2013) The potential for next generation sequencing to characterise the genetic variation underlying nonsyndromic cleft lip and palate phenotypes. OA Genetics, 1 (1), 1-6.

Record type: Article

Abstract

Introduction: Next-generation sequencing is revolutionising the study of genetic variation and its role in disease. Individual DNA samples can now be sequenced cost-effectively enabling analysis of the complete spectrum of genetic variation. This technology has the potential to contribute significantly to the understanding of non-syndromic cleft lip and/or palate. This condition occurs with relatively high frequency and only a proportion of the underlying genetic causal factors have been identified. Many of the genes implicated have been found through genome-wide association studies but further progress is limited because these approaches consider only common genetic variants and neglect rarer variations. Because many of the causal genetic variants remain unknown, the role of gene-environment and gene-gene interaction is difficult to characterise. The identification of novel, low frequency, variants will provide new insights into the biological mechanisms and pathways involved in the condition. Sequence-based analysis will also be invaluable for fine mapping causal variants in the larger regions already identified by linkage and association studies for which positive identification of causal genetic variants has proven difficult. This review considers the available evidence for the genes involved and current understanding of how genetic variation interacts with environmental factors known to influence risk. Only by characterising the underlying genetic factors will the effort to understand gene-environment interaction and underlying functional processes be successful.

Conclusion: Success with next-generation sequencing will lead to improvements in prediction, prevention, and treatment for cleft lip and palate patients.

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2013, Collins_The potential for NGS to characterise the genetic variation underlying non-syndromic cleft lip and palate phenotypes.pdf - Version of Record
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Published date: 1 September 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 389743
URI: http://eprints.soton.ac.uk/id/eprint/389743
PURE UUID: 3b6f2330-1d85-4e68-af90-ae9eebed0c49
ORCID for A. Collins: ORCID iD orcid.org/0000-0001-7108-0771
ORCID for R. Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for S. Ennis: ORCID iD orcid.org/0000-0003-2648-0869

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Date deposited: 12 Apr 2016 13:12
Last modified: 28 Oct 2023 02:08

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Contributors

Author: A. Collins ORCID iD
Author: L. Arias
Author: R. Pengelly ORCID iD
Author: I. Martinez
Author: S. Ennis ORCID iD

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