Publications by authors named "Sara Geraghty"

Though somatic mutations play a critical role in driving cancer initiation and progression, the systems-level functional impacts of these mutations-particularly, how they alter expression across the genome and give rise to cancer hallmarks-are not yet well-understood, even for well-studied cancer driver genes. To address this, we designed an integrative machine learning model, Dyscovr, that leverages mutation, gene expression, copy number alteration (CNA), methylation, and clinical data to uncover putative relationships between nonsynonymous mutations in key cancer driver genes and transcriptional changes across the genome. We applied Dyscovr pan-cancer and within 19 individual cancer types, finding both broadly relevant and cancer type-specific links between driver genes and putative targets, including a subset we further identify as exhibiting negative genetic relationships.

View Article and Find Full Text PDF

Positional plagiocephaly is a craniofacial condition resulting from infant positioning that applies pressure consistently to a part of the skull. This study analyzed the prevalence of, and costs associated with orthotic helmet treatment for positional plagiocephaly and assessed inequities in treatment between medically underserved areas (MUAs) and non-MUAs using health insurance claims data from the Center for Health Information and Analysis (CHIA) in Massachusetts for the years 2016-2021. The mean percentage of patients receiving orthotic helmet therapy was 4.

View Article and Find Full Text PDF

The freshwater sponge Ephydatia muelleri and its Chlorella-like algal partner is an emerging model for studying animal: algal endosymbiosis. The sponge host is a tractable laboratory organism, and the symbiotic algae are easily cultured. We took advantage of these traits to interrogate questions about mechanisms that govern the establishment of durable intracellular partnerships between hosts and symbionts in facultative symbioses.

View Article and Find Full Text PDF