Assessing Rare Variation in Complex Traits : Design and Analysis of Genetic Studies

Assessing Rare Variation in Complex Traits Design and Analysis of Genetic Studies

This unique volume is the first to cover a wide range of design and analysis issues in genetic studies of rare variants, with contributions from experts in the field, through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. The book presents state-of-the-art met...

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Detalles Bibliográficos
Otros Autores: Ritchie, Graham (auth), Zeggini, Eleftheria. editor (editor), Morris, Andrew. editor
Formato: Libro electrónico
Idioma:Inglés
Publicado: New York Springer Nature 2015
New York, NY : 2015.
Edición:1st ed. 2015.
Materias:
Human genetics.
Molecular biology.
Statistics.
Human Genetics.
Molecular Medicine.
Statistics for Life Sciences, Medicine, Health Sciences.
genetic variants; genetic studies
Ver en Biblioteca Universitat Ramon Llull:https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009621993206719
Tabla de Contenidos:
  • Calling Rare Variants from Genotype Data
  • Calling Variants from Sequence Data
  • Rare Variant Quality Control
  • Rare Structural Variants
  • Functional Annotation of Rare Genetic Variants
  • The 1000 Genomes Project
  • The UK10K Project
  • Population Isolates
  • Natural Selection at Rare Variants
  • Collapsing Approaches for the Association Analysis of Rare Variants
  • Rare Variant Association Analysis: Beyond Collapsing Approaches
  • Significance Thresholds for Rare Variant Signals
  • Power of Rare Variant Aggregate Tests
  • Replicating Sequence-based Association Studies of Rare Variants
  • Meta-analysis of Rare Variants
  • Population Stratification of Rare Variants
  • Use of Appropriate Controls in Rare Variant Studies
  • Trans-ethnic Fine-mapping of Rare Causal Variants.

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