Reference calibration, autozygosity and blood-derived variant interpretation in older adults

medRxiv 预印本 · 2026-11-01 · 预印本

Population exomes contain signals of demographic history, inherited disease alleles and, when derived from blood, possible acquired variation. Distinguishing these signals is important in underrepresented populations, where reference absence can reflect both sampling and local frequency differences. To the best of our knowledge, this study represents the first Levantine old-age cohort characterized by whole exomes. W…

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El-Haddad, M., Hendi, N., El-Hajj Fuleihan, G. 等

本文摘自《每日前沿研究简报 · 2026-11-03》「医学与健康」。本内容仅用于研究信息整理与科普交流，不构成医疗建议。