biostudies-literatureKothari CNational Center for Advancing Translational SciencesNICHD NIH HHSNINDS NIH HHSNational Institutes of Health24https://www.ebi.ac.uk/biostudies/studies/S-EPMC8943944biostudies-literatureUnknown14(1)<h4>Background</h4>Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computational phenotypes identify patient cohorts for genetic testing and possible diagnosis. This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of patients at three collaborating clinical research centers: Boston Children's Hospital, Children's National Hospital, and the University of Washington.<h4>Methods</h4>A combination of billing codes from the International Classification of Diseases versions 9 and 10 (ICD-9 and ICD-10) for diagnostic criteria postulated by a researcJournal of neurodevelopmental disordersValidation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.PMC8943944UL1TR001876P50 HD105328U54HD090257K23 NS119666U54 HD090257U54 HD083091P50 HD105351U54 HD090255Kim DMorizono HGuay-Woodford LKothari CPomeroy SLGood AGallo VGeisel GSrivastava SIzem RGierdalski MSahin MKousa YDies KAGarden GAAvillach PfalseValidation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.<h4>Background</h4>Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computational phenotypes identify patient cohorts for genetic testing and possible diagnosis. This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of patients at three collaborating clinical research centers: Boston Children's Hospital, Children's National Hospital, and the University of Washington.<h4>Methods</h4>A combination of billing codes from the International Classification of Diseases versions 9 and 10 (ICD-9 and ICD-10) for diagnostic criteria postulated by a researc2022-01-01T00:00:00Z2022 Mar2026-05-31T05:00:46.389Z2026-04-08T08:11:45.607ZS-EPMC89439443532165510.1186/s11689-022-09434-0