TOPMed Sleep Apnea WGS

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Publications

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.
Cade BE, et al.

Genome Med. 2021 Aug 26;13(1):136. doi: 10.1186/s13073-021-00917-8..
PMID:34446064

Phenotypes

  • Apnea-Hypopnea Index
  • Average oxyhemoglobin desaturation per hypopnea event
  • Minimum oxyhemoglobin saturation during sleep
  • Percentage of sleep with oxyhemoglobin saturation under 90%
  • Average oxyhemoglobin saturation during sleep

Project

TOPMed logo

The NHLBI Trans-Omics for Precision Medicine program (TOPMed) integrates whole-genome sequencing with other 'omics data to improve scientific understanding of heart, lung, blood, and sleep disorders.

Experiment summary

This study analyzed genetic associations with five sleep-disordered breathing phenotypes in individuals of African American, Asian American, European American/Australian, and Hispanic American ancestry. Included in the analysis were whole-genome sequence data from 7,988 individuals and imputed genotype data from 13,257 individuals.

In addition to the main analysis, the following subsets are available in the Portal: 

Dataset ID
Cade2021_SleepApnea_Mixed_Female_Male