Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.
Identifieur interne : 002624 ( PubMed/Corpus ); précédent : 002623; suivant : 002625Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.
Auteurs : P. Ostergaard ; M A Simpson ; Steve JefferySource :
- Clinical genetics [ 1399-0004 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- congenital : Lymphedema.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- methods : High-Throughput Nucleotide Sequencing.
- Genetic Linkage, Humans, Sequence Analysis, DNA.
Abstract
Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.
DOI: 10.1111/j.1399-0004.2011.01706.x
PubMed: 21595654
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pubmed:21595654Le document en format XML
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<author><name sortKey="Simpson, M A" sort="Simpson, M A" uniqKey="Simpson M" first="M A" last="Simpson">M A Simpson</name>
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<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Sequence Analysis, DNA</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
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<front><div type="abstract" xml:lang="en">Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.</div>
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<Abstract><AbstractText>Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.</AbstractText>
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<Agency>British Heart Foundation</Agency>
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