0000000000876764
AUTHOR
Alba Gutiérrez-sacristán
Text mining and expert curation to develop a database on psychiatric diseases and their genes
Psychiatric disorders constitute one of the main causes of disability worldwide. During the past years, considerable research has been conducted on the genetic architecture of such diseases, although little understanding of their etiology has been achieved. The difficulty to access up-to-date, relevant genotype-phenotype information has hampered the application of this wealth of knowledge to translational research and clinical practice in order to improve diagnosis and treatment of psychiatric patients. PsyGeNET (http://www.psygenet.org/) has been developed with the aim of supporting research on the genetic architecture of psychiatric diseases, by providing integrated and structured accessi…
EHRtemporalVariability: delineating temporal dataset shifts in electronic health records
AbstractBackgroundTemporal variability in healthcare processes or protocols is intrinsic to medicine. Such variability can potentially introduce dataset shifts, a data quality issue when reusing electronic health records (EHRs) for secondary purposes. Temporal dataset shifts can present as trends, abrupt or seasonal changes in the statistical distributions of data over time, being particularly complex to address in multi-modal and highly coded data. These changes, if not delineated, can harm population and data-driven research, such as machine learning. Given that biomedical research repositories are increasingly being populated with large historical data from EHRs, there is a need for spec…