Article
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders.
Cell - 14 Nov 2024
Zhou Bo, Arthur Joseph G, Guo Hanmin, Kim Taeyoung, Huang Yiling, Pattni Reenal, Wang Tao, Kundu Soumya, Luo Jay X J, Lee HoJoon, Nachun Daniel C, Purmann Carolin, Monte Emma M, Weimer Annika K, Qu Ping-Ping, Shi Minyi, Jiang Lixia, Yang Xinqiong, Fullard John F, Bendl Jaroslav, Girdhar Kiran, Kim Minsu, Chen Xi, Greenleaf William J, Duncan Laramie, Ji Hanlee P, Zhu Xiang, Song Giltae, Montgomery Stephen B, Palejev Dean, Zu Dohna Heinrich, Roussos Panos, Kundaje Anshul, Hallmayer Joachim F, Snyder Michael P, Wong Wing H, Urban Alexander E
Abstract excerpt
Complex structural variations (cxSVs) are often overlooked in genome analyses due to detection challenges. We developed ARC-SV, a probabilistic and machine-learning-based method that enables accurate detection and reconstruction of cxSVs from standard datasets. By applying ARC-SV across 4,262 genomes representing all continental populations, we identified cxSVs as a significant source of natural human genetic...
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