Article

Population differences in allele frequencies modify the clinical interpretation of genetic variants associated with rare diseases in Chilean patients

2026-02-03

Abstract excerpt

<title>Abstract</title> <p>Background Accurate interpretation of genetic variants relies heavily on population allele frequencies derived from large international reference databases. However, these resources largely underrepresent Latin American populations, raising concerns about the generalizability of variant interpretation and the potential for diagnostic inequities, particularly in admixed and indigenous p...

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Literature Corpus work: 436f04b1-b364-54d9-86ad-4b67fbeba3a5
DOI: 10.21203/rs.3.rs-8682805/v1

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