Using single-cell sequencing and an in vitro culture system, researchers followed transcriptomic and epigenomic features over time in three main embryonic cell lineages.
Researchers focused on candidate genes near expression quantitative trait loci identified by combining cancer susceptibility SNPs and available transcriptomic data.
Using brain samples from individuals with or without multiple sclerosis, researchers detected declining projection neuron levels and related immune cell shifts.
Using samples from heart failure patients and healthy controls, researchers uncovered a gene that, when absent in mice, reduced their risk of heart failure.
With deep learning, researchers profiled de novo noncoding variants in individuals with ASD from nearly 1,800 families, identifying regulatory factors and related pathways.
By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.
