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Chunk #2 — Introduction

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Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.
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found to be associated with BMD or osteoporosis by previous studies [10–16]. However, although many associated genetic variants have been identified by GWAS, the causal variants truly with biological effects have remained largely unknown. Furthermore, only ~10% of the total BMD heritability has been explained by the current GWAS findings [14]. Additional genes and biological mechanisms underlying osteoporosis could be identified from existing GWAS data by using novel biostatistic and bioinformatic methods [17].