Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.

Jianqiao Li Margaret A Hojlo Sampath Chennuri Nitin Gujral Heather L Paterson Kent A Shefchek Casie A Genetti Emily L Cohn Kara C Sewalk Emily A Garvey Elizabeth D Buttermore Nickesha C Anderson Alan H Beggs Pankaj B Agrawal John S Brownstein Melissa A Haendel Ingrid A Holm Joseph Gonzalez-Heydrich Catherine A Brownstein

Published in: Journal of medical Internet research (2021)

Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.

Keyphrases

high throughput
end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
electronic health record
genome wide
gene expression
machine learning
big data
case report
copy number
dna methylation