Identification and quantification of oligogenic loss-of-function disorders
Journal
Genetics in Medicine
ISSN
1098-3600
Date Issued
2022
Author(s)
Arthur Stefanski
Eduardo Pérez-Palma
Marko Mrdjen
Megan McHugh
Costin Leu
Dennis Lal
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Cite this document
Stefanski, A., Pérez-Palma, E., Mrdjen, M., McHugh, M., Leu, C., & Lal, D. (2022). Identification and quantification of oligogenic loss-of-function disorders. Genetics in Medicine, 24(3), 729-735. https://doi.org/10.1016/j.gim.2021.10.026
Dataset(s)
Dataset - Identification and quantification of oligogenic loss-of-function disorders
Subjects
copy number variants
;
dna copy number variations
;
genome
;
haploinsufficiency
;
humans
;
phenotype
;
article
;
base pairing
;
controlled study
;
copy number variation
;
drug targeting
;
epilepsy
;
gene deletion
;
genetic association
;
genetic disorder
;
genome analysis
;
genotype phenotype correlation
;
haploinsufficiency
;
health care quality
;
human
;
major clinical study
;
molecular pathology
;
monogenic epilepsy
;
mutation rate
;
oligogenic loss of function disorder
;
quantitative analysis
;
copy number variation
;
genetics
;
genome
;
phenotype