Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Kristian A GrothYskert Von KodolitschKerstin KutscheMette GaustadnesKasper ThorsenNiels H AndersenClaus H Gravholt

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

FBN1 databases can be imprecise and incomplete. Data should be used with caution when evaluating FBN1 variants. At present, the UMD-FBN1 database seems to be the biggest and best curated; therefore, it is the most comprehensive database. However, the need for better genotype-phenotype curated databases is evident, and we hereby present such a database.Genet Med advance online publication 01 December 2016.

Keyphrases

big data
adverse drug
electronic health record
copy number
social media
machine learning
artificial intelligence
health information
healthcare
emergency department
quality improvement
genome wide