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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 ...
Cell states and neuronal vulnerabilities in neurodegenerative diseases
(2022-09-14)
Neurodegenerative diseases are pathologically characterized by the induction of gliotic states and the loss of specific neurons in the human brain. A precise ascertainment of cellular states altered and those types of ...
Multiplexed reading and writing of the transcriptome
(2022-06-06)
Having complete spatial and temporal information about biological systems will provide the ultimate guidebook about how complex systems like the human body function. In the meantime, the understanding of how the complex ...
Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms
(2022-09-07)
Understanding the functional impact of non-coding variants remains a major challenge in cancer genetics. In the case of non-coding germline risk associations from GWAS, many associations are in high LD and cannot be resolved ...
Phylogeography, color variation, and hybridization in an Andean tanager, Superciliaried Hemispingus (Aves: Thlypopsis superciliaris)
(2022-03-17)
Natural history collections are invaluable libraries of Earth’s biodiversity. Museum specimens frequently span temporal, geographic, and taxonomic scales and afford unparalleled insights into environmental, organismal, and ...
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 ...
The evolution of longevity in the context of epigenetic regulation and genetic sequence evolution
(2022-11-23)
Modern-day humans enjoy an elongated lifespan relative to chimpanzees, even when accounting for environmental factors such as healthcare. This suggests that genetic changes to the biological processes underlying longevity ...
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 ...
Integrative approaches to expand the utility of CRISPR tiling mutagenesis screens for biological discovery
(2022-10-17)
The development of CRISPR–Cas genome editing technologies has transformed our ability to perform complex genetic manipulations in situ. Furthermore, the programmable nature of CRISPR–Cas systems has enabled these manipulations ...
Somatic mutations in the human brain: Tracing the origins of cancer and schizophrenia
(2022-04-20)
Somatic mutations, present in a subset of cells in the body, provide a unique opportunity for mechanistic understanding of disease. Somatic mutations represent natural experiments in humans akin to conditional transgenic ...