Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease
Identifieur interne : 000050 ( Main/Exploration ); précédent : 000049; suivant : 000051Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease
Auteurs : Jose Bras [Royaume-Uni] ; Rita Guerreiro [Royaume-Uni] ; John Hardy [Royaume-Uni]Source :
- Nature Reviews Neuroscience [ 1471-003X ] ; 2012-07.
Abstract
Over the past five years the field of neurogenetics has yielded a wealth of data that have facilitated a much greater understanding of the aetiology of many neurological diseases. Most of these advances are a result of improvements in technology that have allowed us to determine whole-genome structure and variation and to examine its impact on phenotype in an unprecedented manner. Genome-wide association studies have provided information on how common genetic variability imparts risk for the development of various complex diseases. Moreover, the identification of rare disease-causing mutations have led to the discovery of novel biochemical pathways that are involved in disease pathogensis. Here, we review these advances and discuss how they have changed the approaches being used to study neurological disorders.
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DOI: 10.1038/nrn3271
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All Rights Reserved.</publisher><date type="published" when="2012-07">2012-07</date><biblScope unit="volume">13</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="453">453</biblScope><biblScope unit="page" to="464">464</biblScope></imprint><idno type="ISSN">1471-003X</idno></series><idno type="istex">DC2127FED322714B21A4D40B2E93EF25D07EF9F2</idno><idno type="DOI">10.1038/nrn3271</idno><idno type="ArticleID">nrn3271</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1471-003X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="eng">Over the past five years the field of neurogenetics has yielded a wealth of data that have facilitated a much greater understanding of the aetiology of many neurological diseases. Most of these advances are a result of improvements in technology that have allowed us to determine whole-genome structure and variation and to examine its impact on phenotype in an unprecedented manner. Genome-wide association studies have provided information on how common genetic variability imparts risk for the development of various complex diseases. Moreover, the identification of rare disease-causing mutations have led to the discovery of novel biochemical pathways that are involved in disease pathogensis. Here, we review these advances and discuss how they have changed the approaches being used to study neurological disorders.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name></noRegion><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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