Heritability from EHR

[PMID: 29779949] [Cell]

Disease Heritability Inferred from Familial Relationships Reported in Medical Records

“We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research.”


Multi-region Omics in Ovarian Cancer

[PMID: 29754820] [Cell]

Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian Cancer

“Through multi-region study of 212 samples from 38 patients with whole-genome sequencing, immunohistochemistry, histologic image analysis, gene expression profiling, and T and B cell receptor sequencing, we identified three immunologic subtypes across samples and extensive within-patient diversity. “