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Updated: Jan 11, 2026

An Integrated Approach for Microprotein Identification and Sequence Analysis
Published on: July 12, 2022
Decoding a Million Genomes: Unveiling the Protein-coding Landscape and Its Implications for Precision Medicine
Jinwei Zhang1,2
1Institute of Biomedical and Clinical Sciences, Medical School, Faculty of Health and Life Sciences, University of Exeter, Hatherly Laboratories, Streatham Campus, Exeter, EX4 4PS, UK.
Abstract:
The study by Sun et al. , 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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