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.
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.
The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.
An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.
The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.
