Publications by authors named "Lori Napier"
Article Synopsis
- A 3-year precision medicine study involved 1,190 adults undergoing whole-genome sequencing and deep phenotyping to understand genetic risks associated with various diseases.
- Out of the participants, 17.3% had identified genetic variants indicating a predisposition to diseases, with significant genotype-phenotype associations found primarily in cardiovascular and metabolic conditions.
- The study highlights the integration of genomic data with detailed phenotypic information to improve clinical assessments, revealing both associations and instances with no discernible connections in some individuals despite pathogenic variants.
Background: Modern medicine is rapidly moving towards a data-driven paradigm based on comprehensive multimodal health assessments. Integrated analysis of data from different modalities has the potential of uncovering novel biomarkers and disease signatures.
Methods: We collected 1385 data features from diverse modalities, including metabolome, microbiome, genetics, and advanced imaging, from 1253 individuals and from a longitudinal validation cohort of 1083 individuals.
Obesity is a heterogeneous phenotype that is crudely measured by body mass index (BMI). There is a need for a more precise yet portable method of phenotyping and categorizing risk in large numbers of people with obesity to advance clinical care and drug development. Here, we used non-targeted metabolomics and whole-genome sequencing to identify metabolic and genetic signatures of obesity.
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