Author
Children's Hospital of PhiladelphiaORCID 0000-0003-4396-1226Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Niall J. Lennon, Leah Claire Kottyan, C. Kachulis…·Eimear E. Kenny
The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.
Jingchun Qu, Hui‐Qi Qu, Jonathan P. Bradfield…·Hakon H. Hakonarson
This study identifies 22 novel genetic loci associated with low polygenic risk score type 1 diabetes by analyzing rare variants in two independent cohorts.
Eric Venner, Victoria Yi, David R. Murdock…·Andrea L. Hartzler
Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.
Mullai Murugan, Lawrence J. Babb, Casey Overby Taylor…·Richard A. Gibbs
This paper describes the implementation of HL7 FHIR standards for representing clinical genomics results in the eMERGE Networks, improving interoperability for genetic data management.
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu…·Richard A. Gibbs
Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.