Author
BGI Group (China)ORCID 0000-0002-4603-0024Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Jiale Xiang, Jiguang Peng, Xiangzhong Sun…·Zhiyu Peng
This paper develops a long-read indexed PCR method using the CycloneSEQ nanopore platform to detect all hemoglobinopathy variants with 100% sensitivity and specificity.
H. J. Yang, Yanling Dong, Zhigang Wang…·Jiale Xiang
This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.
Zhenzhen Yin, Shoufang Qu, Chuanfeng Huang…·Jie Huang
The paper develops a national panel of 31 genomic DNA reference materials for thalassemia genetic testing, validated across multiple laboratories and stable under various conditions.