This paper describes the co-creation of public health educational materials and dissemination plans to improve genetic literacy and equity in genomics research and practice.

Public Health Genomics · Dec 19, 2024Peer-reviewedGenetic & Genomic Medicine

Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea E. Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori A. Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, , Jonathan S. Berg

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

The American Journal of Human Genetics · Aug 26, 2020Peer-reviewedGenetic & Genomic Medicine

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, , Jonathan S. Berg

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

The American Journal of Human Genetics · May 25, 2017Peer-reviewedGenetics