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.
