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Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

8 Aug 2023

Abstract excerpt

Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis...

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PMID: 37623486
DOI: 10.3390/jpm13081236

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