Tag: Framework

Subclonal Architectures from Bulk Seq

[PMID: 29808029] [Nature Genetics]

Quantification of subclonal selection in cancer from bulk sequencing data

“Here we build upon theoretical population-genetics models of asexual evolution and Bayesian statistical inference on genetic data to measure cancer evolution in human tumors.”


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.”