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2000
Volume 26, Issue 4
  • ISSN: 1389-2029
  • E-ISSN: 1875-5488

Abstract

The study by Sun , which sequenced exomes from 983,578 individuals, provides a comprehensive resource on protein-coding genetic variation. This commentary examines the key findings, including rare biallelic variants and loss-of-function intolerant genes, while emphasizing their implications for gene splicing, human knockouts, and disease-associated genes. Additionally, we discuss how these insights propel advancements in precision medicine and suggest future research directions, particularly in the study of non-coding DNA and regulatory RNAs at population scales.

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2025-01-08
2025-10-12
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