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Yatros authored May 12, 2021
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Expand Up @@ -12,7 +12,7 @@ Genome-wide association studies (GWAS) have identified many common variants asso

Epistasis has been proposed to underlie some of this "missing heritability" identified in the post-GWAS era, though this topic remains controversial ([Ritchie et al. 2015](https://pubmed.ncbi.nlm.nih.gov/25403525/); [Ritchie and Van Steen 2018](https://pubmed.ncbi.nlm.nih.gov/29862246/); [Bandres-Ciga et al. 2020](https://pubmed.ncbi.nlm.nih.gov/31991247/)). Epistasis occurs when there is an interaction between genetic variants. For example, an allele an locus 1 may prevent an alleles at locus 2 from manifesting ([Bateson 1909](https://scholar.google.com/scholar?q=Bateson,+W.+(1909)+Mendel%27s+Principles+of+Heredity.+Cambridge+University+Press,+Cambridge.)), a phenomenon known as masking.

The concept of epistasis has been extensively studied in model systems, but its importance in humans continues to be a matter of debate ([Carlborg and Haley 2004](https://pubmed.ncbi.nlm.nih.gov/15266344/);[Ritchie and Van Steen 2018](https://pubmed.ncbi.nlm.nih.gov/29862246/)). One of the reasons for this discussion is that there is a no of consensus on the methods used to perform epistasis analyses and replication studies are required.
The concept of epistasis has been extensively studied in model systems, but its importance in humans continues to be a matter of debate ([Carlborg and Haley 2004](https://pubmed.ncbi.nlm.nih.gov/15266344/); [Ritchie and Van Steen 2018](https://pubmed.ncbi.nlm.nih.gov/29862246/)). One of the reasons for this discussion is that there is a no of consensus on the methods used to perform epistasis analyses and replication studies are required.

The current project is a variant interaction pipeline built as part of the IPDGC x GP2 Hackathon 2021 Project to start a collaborative environment to generate a user friendly tool to investigate epistasis between pairs of variants provided by the user.

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