Tag: Functional genomics
Functional analysis of cancer-associated germline risk variants
Single-nucleotide variants (SNVs) in regulatory DNA are linked to inherited cancer risk. Massively parallel reporter assays of 4,041 SNVs linked to…
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Microglia, the innate immune cells of the central nervous system, have been genetically implicated in multiple neurodegenerative diseases. Mapping …
Systematic reconstruction of molecular pathway signatures using scalable single-cell perturbation screens
Recent advancements in functional genomics have provided an unprecedented ability to measure diverse molecular modalities, but predicting causal re…
Precise RNA targeting with CRISPR–Cas13d
The possibility of collateral RNA degradation poses a concern for transcriptome perturbations and therapeutic applications using CRISPR–Cas13. We…