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  1. Abstract Background

    The clinical utility of machine-learning (ML) algorithms for breast cancer risk prediction and screening practices is unknown. We compared classification of lifetime breast cancer risk based on ML and the BOADICEA model. We explored the differences in risk classification and their clinical impact on screening practices.

    Methods

    We used three different ML algorithms and the BOADICEA model to estimate lifetime breast cancer risk in a sample of 112,587 individuals from 2481 families from the Oncogenetic Unit, Geneva University Hospitals. Performance of algorithms was evaluated using the area under the receiver operating characteristic (AU-ROC) curve. Risk reclassification was compared for 36,146 breast cancer-free women of ages 20–80. The impact on recommendations for mammography surveillance was based on the Swiss Surveillance Protocol.

    Results

    The predictive accuracy of ML-based algorithms (0.843 ≤ AU-ROC ≤ 0.889) was superior to BOADICEA (AU-ROC = 0.639) and reclassified 35.3% of women in different risk categories. The largest reclassification (20.8%) was observed in women characterised as ‘near population’ risk by BOADICEA. Reclassification had the largest impact on screening practices of women younger than 50.

    Conclusion

    ML-based reclassification of lifetime breast cancer risk occurred in approximately one in three women. Reclassification is important for younger women because it impacts clinical decision- making for the initiation of screening.

  2. Abstract

    Multiple human behaviors improve early in life, peaking in young adulthood, and declining thereafter. Several properties of brain structure and function progress similarly across the lifespan. Cognitive and neuroscience research has approached aging primarily using associations between a few behaviors, brain functions, and structures. Because of this, the multivariate, global factors relating brain and behavior across the lifespan are not well understood. We investigated the global patterns of associations between 334 behavioral and clinical measures and 376 brain structural connections in 594 individuals across the lifespan. A single-axis associated changes in multiple behavioral domains and brain structural connections (r = 0.5808). Individual variability within the single association axis well predicted the age of the subject (r = 0.6275). Representational similarity analysis evidenced global patterns of interactions across multiple brain network systems and behavioral domains. Results show that global processes of human aging can be well captured by a multivariate data fusion approach.

  3. Abstract

    We describe a dataset of processed data with associated reproducible preprocessing pipeline collected from two collegiate athlete groups and one non-athlete group. The dataset shares minimally processed diffusion-weighted magnetic resonance imaging (dMRI) data, three models of the diffusion signal in the voxel, full-brain tractograms, segmentation of the major white matter tracts as well as structural connectivity matrices. There is currently a paucity of similar datasets openly shared. Furthermore, major challenges are associated with collecting this type of data. The data and derivatives shared here can be used as a reference to study the effects of long-term exposure to collegiate athletics, such as the effects of repetitive head impacts. We use advanced anatomical and dMRI data processing methods publicly available as reproducible web services at brainlife.io.

  4. Abstract

    Endogenous attention is the cognitive function that selects the relevant pieces of sensory information to achieve goals and it is known to be controlled by dorsal fronto-parietal brain areas. Here we expand this notion by identifying a control attention area located in the temporal lobe. By combining a demanding behavioral paradigm with functional neuroimaging and diffusion tractography, we show that like fronto-parietal attentional areas, the human posterior inferotemporal cortex exhibits significant attentional modulatory activity. This area is functionally distinct from surrounding cortical areas, and is directly connected to parietal and frontal attentional regions. These results show that attentional control spans three cortical lobes and overarches large distances through fiber pathways that run orthogonally to the dominant anterior-posterior axes of sensory processing, thus suggesting a different organizing principle for cognitive control.

  5. Abstract The degree to which glaucoma has effects in the brain beyond the eye and the visual pathways is unclear. To clarify this, we investigated white matter microstructure (WMM) in 37 tracts of patients with glaucoma, monocular blindness, and controls. We used brainlife.io for reproducibility. White matter tracts were subdivided into seven categories ranging from those primarily involved in vision (the visual white matter) to those primarily involved in cognition and motor control. In the vision tracts, WMM was decreased as measured by fractional anisotropy in both glaucoma and monocular blind subjects compared to controls, suggesting neurodegeneration due to reduced sensory inputs. A test–retest approach was used to validate these results. The pattern of results was different in monocular blind subjects, where WMM properties increased outside the visual white matter as compared to controls. This pattern of results suggests that whereas in the monocular blind loss of visual input might promote white matter reorganization outside of the early visual system, such reorganization might be reduced or absent in glaucoma. The results provide indirect evidence that in glaucoma unknown factors might limit the reorganization as seen in other patient groups following visual loss.
  6. Abstract We describe a collection of T1-, diffusion- and functional T2*-weighted magnetic resonance imaging data from human individuals with albinism and achiasma. This repository can be used as a test-bed to develop and validate tractography methods like diffusion-signal modeling and fiber tracking as well as to investigate the properties of the human visual system in individuals with congenital abnormalities. The MRI data is provided together with tools and files allowing for its preprocessing and analysis, along with the data derivatives such as manually curated masks and regions of interest for performing tractography.
  7. Decentralized research data management (dRDM) systems handle digital research objects across participating nodes without critically relying on central services. We present four perspectives in defense of dRDM, illustrating that, in contrast to centralized or federated RDM solutions, a dRDM system based on heterogeneous but interoperable components can offer a sustainable, resilient, inclusive, and adaptive infrastructure for scientific stakeholders: An individual scientist or lab, a research institute, a domain data archive or cloud computing platform, and a collaborative multi-site consortium. All perspectives share the use of a common, self-contained, portable data structure as an abstraction from current technology and service choices. In conjunction, the four perspectives review how varying requirements of independent scientific stakeholders can be addressed by a scalable, uniform dRDM solution, and present a working system as an exemplary implementation.
  8. Abstract Tractography has created new horizons for researchers to study brain connectivity in vivo. However, tractography is an advanced and challenging method that has not been used so far for medical data analysis at a large scale in comparison to other traditional brain imaging methods. This work allows tractography to be used for large scale and high-quality medical analytics. BUndle ANalytics (BUAN) is a fast, robust, and flexible computational framework for real-world tractometric studies. BUAN combines tractography and anatomical information to analyze the challenging datasets and identifies significant group differences in specific locations of the white matter bundles. Additionally, BUAN takes the shape of the bundles into consideration for the analysis. BUAN compares the shapes of the bundles using a metric called bundle adjacency which calculates shape similarity between two given bundles. BUAN builds networks of bundle shape similarities that can be paramount for automating quality control. BUAN is freely available in DIPY. Results are presented using publicly available Parkinson’s Progression Markers Initiative data.