Development of self-phenotyping tools to empower patients and improve diagnostics
Kent Shefchek, Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein, Erin Rooney Riggs, Matthew Might, Damian P. Smedley, Amy Clugston, Alan H. Beggs, Heather L. Paterson, Peter N. Robinson, Nicole Vasilevsky, Ingrid A. Holm, Melissa Anne Haendel
The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.
EBioMedicine · Oct 30, 2025Peer-reviewedGenetic & Genomic Medicine