Efficient gene–environment interaction tests for large biobank‐scale sequencing studies
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DOI: 10.1002/gepi.22351
Abstract: Complex human diseases are affected by genetic and environmental risk factors and their interactions. Gene–environment interaction (GEI) tests for aggregate genetic variant sets have been developed in recent years. However, existing statistical methods become rate… read more here.
Keywords: scale sequencing; sequencing studies; gene environment; environment interaction ... See more keywords
Exome sequencing of Finnish isolates enhances rare-variant association power
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DOI: 10.1038/s41586-019-1457-z
Abstract: Exome-sequencing studies have generally been underpowered to identify deleterious alleles with a large effect on complex traits as such alleles are mostly rare. Because the population of northern and eastern Finland has expanded considerably and… read more here.
Keywords: deleterious alleles; exome sequencing; sequencing studies; association power ... See more keywords
Sizing up whole-genome sequencing studies of common diseases
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DOI: 10.1038/s41588-018-0113-0
Abstract: The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for common, complex diseases highlights the… read more here.
Keywords: studies common; whole genome; common diseases; sizing whole ... See more keywords
Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies
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DOI: 10.1371/journal.pgen.1008490
Abstract: Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it is still unclear whether afflicted families are likely to share a single highly penetrant rare variant, many minimally penetrant common… read more here.
Keywords: prs; familial aggregation; genetics; sequencing studies ... See more keywords