Decoding biology with massively parallel reporter assays and machine learning
Massively parallel reporter assays (MPRAs) are powerful tools for quantifying the impacts of
sequence variation on gene expression. Reading out molecular phenotypes with …
sequence variation on gene expression. Reading out molecular phenotypes with …
How our brains are built: emerging approaches to understand human-specific features
ND Moss, D Lollis, DL Silver - Current Opinion in Genetics & Development, 2024 - Elsevier
Understanding what makes us uniquely human is a long-standing question permeating
fields from genomics, neuroscience, and developmental biology to medicine. The discovery …
fields from genomics, neuroscience, and developmental biology to medicine. The discovery …
Multiplex generation and single-cell analysis of structural variants in mammalian genomes
Studying the functional consequences of structural variants (SVs) in mammalian genomes is
challenging because (i) SVs arise much less commonly than single-nucleotide variants or …
challenging because (i) SVs arise much less commonly than single-nucleotide variants or …
[HTML][HTML] Just a SNP away: The future of in vivo massively parallel reporter assay
KN Degner, JL Bell, SD Jones, H Won - Cell Insight, 2024 - Elsevier
The human genome is largely noncoding, yet the field is still gras** to understand how
noncoding variants impact transcription and contribute to disease etiology. The massively …
noncoding variants impact transcription and contribute to disease etiology. The massively …
Targeted mutagenesis of specific genomic DNA sequences in animals for the in vivo generation of variant libraries
Understanding how the number, placement and affinity of transcription factor binding sites
dictates gene regulatory programs remains a major unsolved challenge in biology …
dictates gene regulatory programs remains a major unsolved challenge in biology …
[HTML][HTML] Deciphering the functional impact of Alzheimer's Disease-associated variants in resting and proinflammatory immune cells
ML Bond, IY Quiroga-Barber, S D'Costa, Y Wu… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Genome-wide association studies have identified loci associated with Alzheimer's Disease
(AD), but identifying the exact causal variants and genes at each locus is challenging due to …
(AD), but identifying the exact causal variants and genes at each locus is challenging due to …
Spatial-scERA: A method for reconstructing spatial single-cell enhancer activity in multicellular organisms
B Alberti, S Vincent, I Stévant, D Lajoignie, H Tarayre… - bioRxiv, 2024 - biorxiv.org
Enhancers play an essential role in developmental processes by orchestrating the spatial
and temporal regulation of gene expression. However, map** the location of these …
and temporal regulation of gene expression. However, map** the location of these …