Bryan Laraway

TL;DR: The Monarch Initiative as discussed by the authors integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search, and develops many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases.

TL;DR: Using a mammary-specific Cre model, it is found that expression of c-Myc(WT) resulted in increased mammary gland density, but normal morphology and no tumors at the level expressed from the ROSA promoter, and this was associated with increased genomic instability and normal apoptotic function.

TL;DR: The results reveal an important mode of Myc activation in human breast cancer and a mechanism contributing to Myc deregulation involving unique insight into inactivation of the Axin1 tumor suppressor in breast cancer.

TL;DR: The Monarch Initiative provides tools for genotype-phenotype analysis, genomic diagnostics, and precision medicine across broad areas of disease.