Personalized genome assembly for accurate cancer somatic mutation discovery using cancer-normal paired reference samples
Chunlin Xiao, Zhong Chen, Wanqiu Chen, Cory C. Padilla, Li-Tai Fang, Tiantian Liu, Valérie Schneider, Charles Wang, Wenming Xiao
This study compares somatic mutation detection accuracy using personalized genome assembly versus standard reference in cancer samples, showing improved results with personalized assemblies.
bioRxiv · Apr 9, 2021 · PreprintBioinformatics