Article

The large-scale whole-genome sequencing era expedited medical discovery and clinical translation

2025-02-08

Abstract excerpt

Genomic research has been constrained by insufficient diversity over the past two decades, with over 90 % of studies targeting populations of European ancestry. This imbalance has hampered health equity and precision medicine, resulting in limited transferability of polygenic risk scores to underrepresented populations and misinterpretations of the pathogenicity of genomic variants. Recent advancements in sequenc...

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Literature Corpus work: 0638afe8-65ca-5e0f-9ea1-f2a1a6fc60b1
DOI: 10.1016/j.engmed.2025.100055

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