TY  - GEN
N2  - Many genetic variants are of unknown significance (VUS). Efficient and accurate electronic health record (EHR) phenotyping, having facilitated genome-wide association studies, could identify patients with VUSs who exhibit phenotypic features that might indicate pathogenicity of those variants. Identifying and following up with these patients could improve their healthcare, and assist in improving genetic variant categorization. With further assessment, these methods, combined with other data, could be used to identify phenotypes in patients with VUSs, URVs, or CPVs, which in turn could facilitate the functional categorization of those variants as either pathogenic or benign.
DO  - 10.6083/7p88cg990
DO  - DOI
AB  - Many genetic variants are of unknown significance (VUS). Efficient and accurate electronic health record (EHR) phenotyping, having facilitated genome-wide association studies, could identify patients with VUSs who exhibit phenotypic features that might indicate pathogenicity of those variants. Identifying and following up with these patients could improve their healthcare, and assist in improving genetic variant categorization. With further assessment, these methods, combined with other data, could be used to identify phenotypes in patients with VUSs, URVs, or CPVs, which in turn could facilitate the functional categorization of those variants as either pathogenic or benign.
AD  - Oregon Health and Science University
T1  - Electronic health record phenotyping to facilitate the categorization of genetic variants of uncertain significance
DA  - 2020
AU  - Pacheco, Jennifer
L1  - https://digitalcollections.ohsu.edu/record/7855/files/Pacheco.Jennifer.2020.pdf
PB  - Oregon Health and Science University
PY  - 2020
ID  - 7855
L4  - https://digitalcollections.ohsu.edu/record/7855/files/Pacheco.Jennifer.2020.pdf
KW  - Electronic Health Records
KW  - Lipoproteins, LDL
KW  - Humans
KW  - Genotype
KW  - Algorithms
KW  - Phenotype
TI  - Electronic health record phenotyping to facilitate the categorization of genetic variants of uncertain significance
Y1  - 2020
L2  - https://digitalcollections.ohsu.edu/record/7855/files/Pacheco.Jennifer.2020.pdf
LK  - https://digitalcollections.ohsu.edu/record/7855/files/Pacheco.Jennifer.2020.pdf
UR  - https://digitalcollections.ohsu.edu/record/7855/files/Pacheco.Jennifer.2020.pdf
ER  -