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 |