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.
Two thirds of families who attended enrollment sessions signed up, but those who did not voiced concerns about privacy, discrimination, and return of results.
The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.
The researchers found that the diversity of epithelial cell types was reduced in nasal polyps, which contained few glandular and ciliated cells and were enriched in basal cells.
To explore the genetic basis of clonal hematopoiesis and its consequences, researchers analyzed genotyping data for more than 151,000 UK Biobank participants.
A new study suggests that enhanced tumor clone frequencies, found by T cell receptor beta gene sequencing, coincide with poorer mycosis fungoides outcomes.
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.
Cases with genome and family history reports and controls with family history reports alone had comparable healthcare costs during the six months after receiving their reports.
Researchers hope to tease out the signature effects that different carcinogens leave on the genome to determine their contributions to disease, Mosaic reports.
