Expert-level probabilistic breathing event detector informs phenotyping of sleep apnea

Diagnosing sleep disordered breathing requires manual annotation of events from sleep studies, such as nocturnal polysomnography, a process that is time-intensive, costly, and prone to inter-rater variability. Automatic approaches exist but lack generalizability due to signal variability across centers. We develop an automatic apneic breathing event detector to localize and classify obstructive apneas, central apneas, hypopneas, and isolated respiratory events without arousals or desaturations. The model is trained on 5456 polysomnographies and tested on 1099 polysomnographies from six cohorts uses an end-to-end deep learning architecture. The model's predictions show a strong correlation with expert annotations for apnea-hypopnea index (r² = 0.84) and achieve an F1 score of 0.78 across apnea event types, with specific F1 scores of 0.71, 0.51, and 0.65 for obstructive apnea, central apnea, and hypopnea events, respectively. In two independent, multi-scored datasets, The model performs comparably or better than individual expert raters. The model's probabilistic output, termed "apnotyping," provides insights into sleep disordered breathing etiology, with event probabilities correlating more strongly with key sleep apnea traits-such as loop gain and pharyngeal muscle compensation-than traditional apnea indexes. This probabilistic approach may enhance diagnostic accuracy and support personalized treatment strategies, leading to improved patient outcomes.