Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome View Full Text


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Article Info

DATE

2014-06

AUTHORS

F. Kortüm, H. Abdollahpour, M. Alawi, G.C. Korenke, E. Seemanova, S. Tinschert, M. Zenker, G. Rosenberger, K. Kutsche

ABSTRACT

Die Exomanalyse ist als Methode zur Identifizierung von pathogenen Sequenzvarianten bei Patienten mit einem nach den mendelschen Regeln vererbten Krankheitsbild nicht mehr wegzudenken. Sie bildet umfassend die codierenden Sequenzen eines Genoms ab und ist schnell und kostengünstig. Da die technischen Schwierigkeiten bei der Durchführung der Exomsequenzierung inzwischen weitgehend gelöst sind, stellt die Auswertung der großen Datenmenge und somit das Finden der pathogenen Sequenzvariante inmitten 10.000er Sequenzabweichungen die eigentliche Herausforderung dar. Dies kann nur mithilfe einer bioinformatischen Filterung der Daten erfolgen, die jeweils unter Berücksichtigung der in die Analyse einbezogenen Patienten und Familienmitglieder sowie des wahrscheinlichsten Erbganges angepasst werden muss. Anhand von 4 Fallbeispielen werden verschiedene Priorisierungsstrategien für die Filterung der Sequenzvarianten vorgestellt, die jeweils zur Identifikation der wahrscheinlich pathogenen Veränderung bei dem jeweiligen Indexpatienten geführt haben. More... »

PAGES

246-254

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    URI

    http://scigraph.springernature.com/pub.10.1007/s11825-014-0446-8

    DOI

    http://dx.doi.org/10.1007/s11825-014-0446-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1004264228


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    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s11825-014-0446-8'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s11825-014-0446-8'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s11825-014-0446-8'

    RDF/XML is a standard XML format for linked data.

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