Alleviating misclassified germline variants in underrepresented populations: a strategy using popmax

CONCLUSION: Underrepresented population-groups can suffer from higher rates of false positive P/LP results. Popmax can partially alleviate these misclassifications, but its efficacy still depends on the degree with which the population-groups is represented in the control cohort.PMID:38522067 | DOI:10.1016/j.gim.2024.101124

Source: Cancer Control - March 24, 2024 Category: Cancer & Oncology Authors: Ning Yuan Lee Melissa Hum Matthew Wong Pei-Yi Ong Soo-Chin Lee Ann S G Lee Source Type: research