AI Article Synopsis

  • - The study proposes a new method for estimating genetic parameters related to diseases using large health datasets, focusing on temporal disease prevalence curves and low-dimensional embeddings instead of traditional genetic data.
  • - Researchers provide over eleven thousand heritability estimates across various study types and calculate more than six hundred thousand genetic, environmental, and phenotypic correlations.
  • - Key findings reveal five general patterns of disease curve shapes, a trend showing lower prevalence for early-onset diseases compared to late-onset, and a negative correlation between disease onset age and heritability.

Article Abstract

Typically, estimating genetic parameters, such as disease heritability and between-disease genetic correlations, demands large datasets containing all relevant phenotypic measures and detailed knowledge of family relationships or, alternatively, genotypic and phenotypic data for numerous unrelated individuals. Here, we suggest an alternative, efficient estimation approach through the construction of two disease metrics from large health datasets: temporal disease prevalence curves and low-dimensional disease embeddings. We present eleven thousand heritability estimates corresponding to five study types: twins, traditional family studies, health records-based family studies, single nucleotide polymorphisms, and polygenic risk scores. We also compute over six hundred thousand estimates of genetic, environmental and phenotypic correlations. Furthermore, we find that: (1) disease curve shapes cluster into five general patterns; (2) early-onset diseases tend to have lower prevalence than late-onset diseases (Spearman's ρ = 0.32, p < 10); and (3) the disease onset age and heritability are negatively correlated (ρ = -0.46, p < 10).

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890770PMC
http://dx.doi.org/10.1038/s41467-019-13455-0DOI Listing

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