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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Curr Opin Pulm Med. 2020 Sep;26(5):544–553. doi: 10.1097/MCP.0000000000000719

Table 3:

Novel genomic methodologies not yet applied to sarcoidosis

Category Methodology Advantage
Genetics Whole-genome sequencing Observed rather than imputed data, full genome coverage, better copy number variant and rare SNP determination
Epigenetics Genome-wide methylation array Quantitative accuracy and reproducibility
Epigenetics Methylation sequencing (e.g., whole-genome bisulfite sequencing) High resolution (up to single-base)
Epigenetics single-cell epigenetics (e.g., single-cell whole-genome bisulfite sequencing) Localization of epigenetic changes to specific cell types
Transcriptomics single-cell RNA-sequencing Localization of transcriptomic changes to specific cell types
Transcriptomics spatial transcriptomis (e.g., 10x Genomic’s Visium) Localization of transcriptomic changes to specific physical locations
Transcriptomics small RNA sequencing (e.g., miRNA-seq) Amplification of microRNA (miRNA), small interfering RNA (siRNA), and piwi-interacting RNA (piRNA)
Analytics Meta-analyses Increased power and diversity of subjects
Analytics Cross-disease comparison methods (e.g., PRSice and LDPred) High-resolution scoring with conditioning on covariates or linkage disequilibrium