Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.

IF 2 4区医学 Q3 GENETICS & HEREDITY

BMC Medical Genomics Pub Date : 2025-08-27 DOI:10.1186/s12920-025-02202-8

Yuxin Zhang, Mingjie Yang, Lulu Yan, Chunxiao Han, Jiangyang Xue, Juan Geng, Changshui Chen, Lijun Bao, Bingqin Xu, Shanshan Wu, Haibo Li

引用次数: 0

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利用长读测序和光学基因组图谱鉴定中国血友病患者F8复合体重组。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Medical Genomics 医学-遗传学

CiteScore

3.90

自引率

0.00%

发文量

243

审稿时长

3.5 months

期刊介绍： BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.