Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Jianfen man"'
Autor:
Fei Tang, Zhonghua Wang, Yan Sun, Linlin Fan, Yun Yang, Xueqin Guo, Yaoshen Wang, Saiying Yan, Zhihong Qiao, Yun Li, Ting Jiang, Xiaoli Wang, Jianfen Man, Lina Wang, Shunyao Wang, Huanhuan Peng, Zhiyu Peng, Xiaoyuan Xie, Lijie Song
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-10 (2024)
Abstract Background The absence of heterozygosity (AOH) is a kind of genomic change characterized by a long contiguous region of homozygous alleles in a chromosome, which may cause human genetic disorders. However, no method of low-pass whole genome
Externí odkaz:
https://doaj.org/article/e9c3699ff09247ab87757ead94fafbd1
Autor:
Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 7, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/d3cc505edba54578a0be910ab2417134
Autor:
Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies
Externí odkaz:
https://doaj.org/article/7532e7768835453c8d80315189966453
Autor:
Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-43 (2023)
Abstract Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number variation (CNV). Many human diseases including genetic disorders are associated with variations
Externí odkaz:
https://doaj.org/article/1714d41afc0d4a33a325a0fab8a74cb5
Autor:
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0148154 (2016)
[This corrects the article DOI: 10.1371/journal.pone.0133636.].
Externí odkaz:
https://doaj.org/article/e1df6b31342e49449ff3d50b55dd2725
Autor:
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0139258 (2015)
Externí odkaz:
https://doaj.org/article/f7f12b0c048447c2bfb7ec22f4aa15db
Autor:
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0133636 (2015)
Targeted next-generation sequencing (NGS) is a cost-effective approach for rapid and accurate detection of genetic mutations in patients with suspected genetic disorders, which can facilitate effective diagnosis.We designed a capture array to mainly
Externí odkaz:
https://doaj.org/article/d225883a4e414a2a9b3a7692f727bdbe
Autor:
Yeqing Qian, Yan Sun, Xueqin Guo, Lijie Song, Yixi Sun, Xiaoyang Gao, Bei Liu, Yuqing Xu, Na Chen, Min Chen, Yuqin Luo, Zhihong Qiao, Linlin Fan, Jianfen Man, Kang Zhang, Xiaoli Wang, Tingting Rong, Zhonghua Wang, Fengxia Liu, Jing Zhao
Publikováno v:
Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p933-938, 10p
Autor:
Xueqin Guo, Yan Sun, Hui Huang, Lina Wang, Wenqian Zhang, Xiaoming Wei, Wei Li, Yang Wan, Liangwei Mao, Lique Du, Hao Li, Long Li, Yanqiu Liu, Teng Zhai, Huang Jin, Jianfen Man
Most of the variation in the human genome is a single nucleotide variation (SNV) based on a single base or small fragment insertions and deletions and genomic copy number variation (CNV). Both types of mutations are involved in many human diseases. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::201673bdc588ae75b8c2736de6e6a660
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform
Autor:
Jianfen Man, Chengbin Yan, Jing Yuan, Yun Yang, Limin Wu, Xuan Wu, Weijun Pan, Lique Du, Liangwei Mao, Xiaoli Cui, Yan Sun, Wei Li, Karsten Kristiansen, Min Li
Publikováno v:
Medicine
Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, ' Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform ', Medicine, vol. 98, no. 12, e14860, pp. 1-7 . https://doi.org/10.1097/MD.0000000000014860
Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, ' Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform ', Medicine, vol. 98, no. 12, e14860, pp. 1-7 . https://doi.org/10.1097/MD.0000000000014860
Supplemental Digital Content is available in the text
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guida
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46ba025a93c5a39ef89333e515c26c1
http://europepmc.org/articles/PMC6709004
http://europepmc.org/articles/PMC6709004