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Trans-Omics for Precision Medicine (TOPMed)

Definition
AI-generated

TOPMed is an NHLBI-supported program that generated deep whole-genome sequencing and harmonized phenotype data across multiple cohorts to advance cardiovascular, lung, blood, and sleep research.

Topics
Cohorts and databases
Synonyms
Trans-Omics for Precision Medicine
URL
https://topmed.nhlbi.nih.gov/
Related
Genotype Imputation Haplotype Reference Consortium (HRC) Imputation Reference Panel

Why it matters in GWAS

TOPMed reference panels improve imputation accuracy, especially for low-frequency variants and underrepresented populations, and provide rich multi-ancestry resources for association studies.

Example usage

"Imputation to the TOPMed panel increased the number of well-imputed low-frequency variants."

Genotype Imputation Haplotype Reference Consortium (HRC) Imputation Reference Panel Low-Pass Sequencing Rare Variant Whole-Genome Sequencing (WGS)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Taliun D, et al. (2021). Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature.
  • Sun Q, Li Y. (2026). Advances in haplotype phasing and genotype imputation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00895-2
← Top Variant Total sum of squares →

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