Ciara Curtin

The researchers developed a catalog of variants found within breed dogs, mixed dogs, village dogs, wolves, and coyotes that will aid future studies.

A randomized controlled trial compared cytochrome P450 genotype-based dosing of tricyclic antidepressants to usual care among patients with depression.

The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.

The project has screened more than 17,000 participants for inherited genetic disorders, particularly hereditary cancer syndromes and familial hypercholesterolemia.

An Australian team of researchers designed one-page reports for families that were implemented as part of a national pediatric ultra-rapid genomic testing program.

Using Undiagnosed Diseases Network data, researchers found that whole-genome sequencing leads to diagnoses, even among adults who previously underwent exome analysis.

Most diagnoses made through such testing would not have been caught by typical screens, researchers reported at the National Society of Genetic Counselors annual meeting.

These difficulties may in part stem from how polygenic risk score reports present risk information, a handful of studies have found.

A recent study has found that a polygenic risk score of more than 300 variants could shift what screening recommendations for breast cancer women might receive.

The PennChart Genomics Initiative allows clinicians to order tests and receive results within the health system's EHR system, making them easier to find and better integrating them with other clinical data.