Harris T. Bland

Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

Genetic Sex Validation for Sample Tracking in Clinical Testing

The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.

Neptune: An environment for the delivery of genomic medicine

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.