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FitCons2 is a new framework that simultaneously clusters genomic sites by epigenomic features and evaluates the strength of natural selection on these sites. FitCons2 scores are used to generate fitness–consequence maps for 115 human cell types.
Multivariate adaptive shrinkage (mash) is a method for estimating and testing multiple effects in multiple conditions. When applied to GTEx data, mash can be used to analyze sharing of eQTL effects by examining variation in effect sizes.
StructLMM is a new method to identify genotype–environment interactions (G×E) that involve multiple exposures or environments. When applied to UK Biobank and eQTL data, StructLMM discovers new G×E signals.
Tri-C is a new 3C approach to identify concurrent chromatin interactions at individual alleles. The authors observe specific higher-order structures involving simultaneous interactions between multiple enhancers and promoters, called regulatory hubs.
This study presents a new latent causal variable (LCV) model that distinguishes between genetic correlation and causation. Applying LCV to genome-wide association summary statistics for 52 traits identified genetically causal effects for 59 pairs of traits.
The heteroskedastic linear mixed model is a new framework for testing both mean and variance effects on quantitative traits. Applying the heteroskedastic linear mixed model to body mass index in the UK Biobank shows that the approach increases the power to detect associated loci.
BayesTyper is a new probabilistic genotyping algorithm that offers superior sensitivity and accuracy relative to existing methods by using exact alignment of read k-mers to a graph representation of the reference and candidate variants.
DLO Hi-C is a new method to investigate the 3D genome. It requires only two rounds of digestion and ligation and removes non-ligated DNA in a cost-effective step by purifying specific linker-ligated DNA fragments.