ArticleGenomics & informatics2021
Functional annotation of lung cancer‒associated genetic variants by cell type‒specific epigenome and long-range chromatin interactome.
Article in Genomics & informatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- scCAPReSE: detection of large-scale genomic rearrangements from single-cell Hi-C based on few-shot learning.Genomics & informatics · 2026Article
- Single-Cell Transcriptomics Reveals Stem Cell-Derived Exosomes Attenuate Inflammatory Gene Expression in Pulmonary Oxygen Toxicity.International journal of molecular sciences · 2025Article
- Merkel cell polyomavirus in lung carcinogenesis: evidence and controversy.Frontiers in oncology · 2025Review
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2 authors at 1 institution in 1 country.
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Abstract
Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung cancer, we categorize regulatory elements based on eight major cell types of human lung tissue. Our results show that 21.68% of lung cancer‒associated risk variants are linked to noncoding regulatory elements, nearly half of which are cell type‒specific. Integrative analysis of high-resolution long-range chromatin interactome maps and single-cell RNA-sequencing data of lung tumors uncovers number of putative target genes of these variants and functionally relevant cell types, which display a potential biological link to cancer susceptibility. The present study greatly expands the scope of functional annotation of lung cancer‒associated genetic risk factors and dictates probable cell types involved in lung carcinogenesis.
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