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.
More than 200 bone mineral density-linked loci turned up using data for over 140,000 individuals, including 153 new loci.
New research suggests some individuals with germline BRCA1/2 mutations who develop cancer may benefit from tumor BRCA functionality testing prior to treatment.
Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.
Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.
In Science this week: research regulation and reporting requirement reform, and more.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.