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Article
Co-varying neighborhood analysis identifies cell populations associated with phenotypes of interest from single-cell transcriptomics
As single-cell datasets grow in sample size, there is a critical need to characterize cell states that vary across samples and associate with sample attributes, such as clinical phenotypes. Current statistical...
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Article
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Biological interpretation of genome-wide association study data frequently involves assessing whether SNPs linked to a biological process, for example, binding of a transcription factor, show unsigned enrichme...
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Article
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-d...
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Article
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratifie...
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Article
Reference-based phasing using the Haplotype Reference Consortium panel
Po-Ru Loh, Alkes Price and colleagues present Eagle2, a reference-based phasing algorithm that allows for highly accurate and efficient phasing of genotypes across a broad range of cohort sizes. They demonstra...
