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Prioritization and functional assessment of noncoding variants associated with complex diseases

Lin Zhou1,2, Fangqing Zhao3,4,5

  • 1Computational Genomics Lab, Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, 100101, China.

Genome Medicine
|July 13, 2018
PubMed
Summary

A new algorithm, Prioritization And Functional Assessment (PAFA), accurately identifies functional noncoding genetic variants linked to complex diseases. PAFA improves upon existing methods, enhancing disease risk prediction and understanding.

Keywords:
Complex diseaseFunctional annotationGenetic variantNoncoding variantVariant prioritization

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