Engineering topics

Linares, Franciel

Publications and source records attributed to Linares, Franciel.

3 records

DOE OSTI2024

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

One of the justifiable criticisms of human genetic studies is the underrepresentation of participants from diverse populations. Lack of inclusion must be addressed at-scale to identify causal disease factors and understand the genetic causes of health disparities. We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans. Systematic analysis revealed 13,672 genomic risk loci; 1608 were only significant after including non-European populations. Fine-mapping identified causal variants at 6318 signals across 613 traits. One-third (n = 2069) were identified in participants from non-European populations. This reveals a broadly similar genetic architecture across populations, highlights genetic insights gained from underrepresented groups, and presents an extensive atlas of genetic associations.

59 BASIC BIOLOGICAL SCIENCES↗

DOE OSTI2023

An Approach to Data Management Planning for Protected Data Projects

This report describes what is required in a data management plan for data that needs to be protected in some fashion. Here we provide an overview of what a data manager should consider, including the data ingestion and various extract-transform-load processes, metadata considerations and documentation, to what might need to be accounted for in the event of data loss. In addition, this report includes two appendices: forms that, when filled out, make the user compliant with DOE data management requirements as well as additional requirements for handling protected data at ORNL.

96 KNOWLEDGE MANAGEMENT AND PRESERVATION↗

DOE OSTI2022

Network-medicine framework for studying disease trajectories in U.S. veterans

A better understanding of the sequential and temporal aspects in which diseases occur in patient’s lives is essential for developing improved intervention strategies that reduce burden and increase the quality of health services. Here we present a network-based framework to study disease relationships using Electronic Health Records from > 9 million patients in the United States Veterans Health Administration (VHA) system. We create the Temporal Disease Network, which maps the sequential aspects of disease co-occurrence among patients and demonstrate that network properties reflect clinical aspects of the respective diseases. We use the Temporal Disease Network to identify disease groups that reflect patterns of disease co-occurrence and the flow of patients among diagnoses. Finally, we define a strategy for the identification of trajectories that lead from one disease to another. The framework presented here has the potential to offer new insights for disease treatment and prevention in large health care systems.

60 APPLIED LIFE SCIENCES↗