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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Partitioning heritability by functional annotation using genome-wide association summary statistics.

Hilary K Finucane1,2, Brendan Bulik-Sullivan3,4, Alexander Gusev2

  • 1Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

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|September 29, 2015
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Genome-wide association studies reveal that specific functional genomic elements significantly contribute to complex disease heritability. A new method, stratified LD score regression, helps partition these heritability contributions across diverse traits.

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Area of Science:

  • Genetics
  • Genomics
  • Computational Biology

Background:

  • Functional genomic elements disproportionately contribute to complex disease heritability.
  • Previous methods for heritability partitioning had limitations with large datasets.

Purpose of the Study:

  • To estimate polygenic contributions of functional elements to heritability in 17 complex diseases and traits.
  • To introduce and apply a novel method for heritability partitioning.

Main Methods:

  • Developed stratified LD score regression for partitioning heritability from genome-wide association study (GWAS) summary statistics.
  • Analyzed a broad set of functional elements, including cell type-specific elements.
  • Utilized GWAS data from an average sample size of 73,599 individuals.

Main Results:

  • Identified significant heritability enrichment in conserved genomic regions across multiple traits.
  • Observed substantial immunological disease-specific heritability enrichment in FANTOM5 enhancers.
  • Found cell type-specific enrichments, notably central nervous system cell types influencing body mass index, age at menarche, educational attainment, and smoking behavior.

Conclusions:

  • Functional genomic elements, particularly conserved regions and enhancers, play a crucial role in the heritability of complex diseases.
  • Cell type-specific regulatory elements contribute to trait heritability, offering insights into disease mechanisms.
  • Stratified LD score regression is an effective and scalable method for heritability partitioning in large GWAS.