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. Author manuscript; available in PMC: 2024 Jun 25.
Published in final edited form as: Lancet Respir Med. 2022 Apr 12;10(5):485–496. doi: 10.1016/S2213-2600(21)00510-5

Table 2:

Ongoing and Future Approaches in COPD Genetics

Approach Description
Biobanks Large population- or healthcare system-based collections with a range of phenotyping, enabling an increase in sample size and examination of pleiotropic or genotype-first effects
Populations of diverse ancestry Initiatives will enable and enhance discoveries and mitigate health inequalities
Phenomics Comprehensive and detailed measures of phenotypes to identify and elucidate genetic mechanisms and disease heterogeneity
Whole-genome sequencing Comprehensive analysis of the genome allowing identification and discovery of rare variants associated with disease
Integrative genomics Incorporation of genetics with gene expression, epigenetics, proteins, and metabolites to identify genetic effects; systems biology and network methods to understand gene regulation
Single-cell sequencing Identification of genetics, gene regulation, and gene expression in individual lung cells, rather than heterogeneous bulk tissue
High-throughput functional genomics Methods to identify functional variants and effector genes at large scale; to be followed by detailed experimental approaches