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Decoding the function of human variation
(2022-11-23)
Gene regulation is fundamental to the identity and survival of every cell. While less than 2% of the human genome is dedicated to protein-coding sequence, at least 19% of the genome is associated with open chromatin or ...
The Landscape and Consequences of Structural Variation in the Human Genome
(2022-09-01)
Structural variants (SVs), defined as any rearrangement of ≥50 DNA nucleotides, are a major source of human genetic diversity that determines the content, order, and orientation of the six billion nucleotides in every human ...
Technologies for assaying the spatial position of biomolecules in situ
(2022-01-05)
As cells receive and send complex signals over varying distances the spatial position of a cell is fundamental to defining its current and future identity. With the advance of single cell genomics technologies over the ...
Investigating the contribution of rare coding variants to human complex traits
(2022-05-11)
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 50K exome-sequenced UK ...