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Estimation Des Risques de Maladies Dues À Des Mutations Génétiques by Alarcon-F

Estimation Des Risques de Maladies Dues À Des Mutations Génétiques

by Alarcon-F
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Book cover type: Paperback
  • ISBN13: 9783841791061
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Omniscriptum
  • Publisher Imprint: Omniscriptum
  • Publication Date:
  • Pages: 196
  • Original Price: GBP 49.0
  • Language: French
  • Edition: N/A
  • Item Weight: 295 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Certaines maladies à âge de début variable sont dues à la présence de mutation(s) d'un gène. Pour ces maladies, l'estimation précise du risque cumulé d'ètre atteint à un certain âge chez les porteurs de la mutation (appelé fonction de pénétrance) permet une meilleure compréhension des mécanismes sous-jacents de la maladie et permet également de développer et d'améliorer des stratégies de prévention. L'estimation de la pénétrance se fait à partir de données familiales recensées sur certains critères plus ou moins complexes. Cependant, la plupart des études utilisent des méthodes d'estimation qui ne tiennent pas compte du biais que représente ce recensement, ce qui implique des fonctions de pénétrance fortement surestimées. Dans ce travail, nous nous sommes intéressés au développement de méthodes d'estimation de la fonction de pénétrance corrigeant pour le recensement des familles.

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