2022
DOI: 10.1093/nar/gkac024
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## Abstract:In the last years, many studies were able to identify associations between common genetic variants and complex diseases. However, the mechanistic biological links explaining these associations are still mostly unknown. Common variants are usually associated with a relatively small effect size, suggesting that interactions among multiple variants might be a major genetic component of complex diseases. Hence, elucidating the presence of functional relations among variants may be fundamental to identify putative … Show more

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##### Cited by 2 publications
(1 citation statement)
##### References 67 publications
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“…(2020), the EthSEQ approach was extended to exploit three PCA dimensions instead of two, improving its sensitivity and precision. In addition, due to its application across different scenarios (Beltran et al., 2015; Gandellini et al., 2019; Huang et al., 2017; Orlando et al., 2022; Sailer et al., 2019; Valentini et al., 2022), several computational and reporting improvements have been implemented. Specifically, EthSEQ version 3 requires 10 times less memory and provides a much larger collection of reference models across different human reference genome assemblies.…”
Section: Commentarymentioning
confidence: 99%
“…(2020), the EthSEQ approach was extended to exploit three PCA dimensions instead of two, improving its sensitivity and precision. In addition, due to its application across different scenarios (Beltran et al., 2015; Gandellini et al., 2019; Huang et al., 2017; Orlando et al., 2022; Sailer et al., 2019; Valentini et al., 2022), several computational and reporting improvements have been implemented. Specifically, EthSEQ version 3 requires 10 times less memory and provides a much larger collection of reference models across different human reference genome assemblies.…”
Section: Commentarymentioning
confidence: 99%