bioRxiv 预印本· Olson, N. D., Dwarshuis, N., Hansen, N. F., Koren, S., Rhie, A., McDaniel, J. H., Wagner, J., Berry, G., Shafin, K., English, A., Saunders, C. T., Kundu, R., Holt, J. M., Freed, D., Abdulkadir, A. A., Daniels, C., Majidian, S., Paulin, L. F., Sedlazeck, F. J., Fleharty, M., Gao, Y., Denti, L., Brambrink, L., Carroll, A., Chang, P.-C., Cook, D. E., Kolesnikov, A., Catreux, S., Edlund, C., Han, J., Murray, L., Qiu, Y., Rossi, M., Scheffler, K., Truong, S., Wang, Y., Chikhi, R., Flores, C., Jaspez, D., Lorenzo-Salazar, J. M., Munoz-Barrera, A., Rubio-Rodriguez, L. A., Lin, M.-J., Vaddadi, K., Lan ·· 21 小时前AI 评分22
GIAB 发布 HG002 v5.0q 变异基准集，新增 2 亿碱基并提升结构变异检测
The Genome In A Bottle HG002 assembly-based variant benchmark set enables comprehensive benchmarking of small and structural variants.
AI 导读
Genome in a Bottle（GIAB）联盟发布基于 HG002 完全定相二倍体组装构建的 v5.0q 变异基准集，可覆盖片段重复、同聚物、串联重复和复杂免疫位点等以往难以比对的区域。
来源：bioRxiv 预印本 · biorxiv.org