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Article

Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring.

American journal of human genetics - 3 Aug 2023

Petter Ella, Ding Yi, Hou Kangcheng, Bhattacharya Arjun, Gusev Alexander, Zaitlen Noah, Pasaniuc Bogdan

Abstract excerpt

Polygenic scores (PGSs) have emerged as a standard approach to predict phenotypes from genotype data in a wide array of applications from socio-genomics to personalized medicine. Traditional PGSs assume genotype data to be error-free, ignoring possible errors and uncertainties introduced from genotyping, sequencing, and/or imputation. In this work, we investigate the effects of genotyping error due to low...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37490908
DOI: 10.1016/j.ajhg.2023.06.015
PMCID: PMC10432141

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