The researchers used the platform, named CRISPR-GO, to study how spatial organization of the genome in the nucleus governs cellular function.
Researchers used fine mapping and other approaches to prioritize proposed coding and non-coding causal variants at rheumatoid arthritis- and type 1 diabetes-linked loci.
Data for hundreds of thousands of participants led to 20 new risk loci for allergic rhinitis, which were further examined by functional annotation and fine mapping.
A Harvard Medical School-led team applied their SNP-seq and FREP approach to identify nearly 150 candidate functional SNPs for juvenile idiopathic arthritis.
Researchers found that functional assays could improve the classification of cystic fibrosis-related missense variants with variable disease expressivity.
Researchers from A*Star and elsewhere have implicated a recessive mutation in CAMK2A in a neurodevelopmental disorder affecting a pair of siblings.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
In PNAS this week: cautionary note for cross-species functional genomic comparisons, chimeric pig models of X-linked diseases, and more.
The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.
The perturbed genes will be identified by barcodes associated with single guide RNAs, and read using an in situ sequencing method.
This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.
The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.
Researchers find that people's genetics influence their success at university, but that it is not the only factor.
In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.