المؤلفون: Tang, Fei, Wang, Zhonghua, Sun, Yan, Fan, Linlin, Yang, Yun, Guo, Xueqin, Wang, Yaoshen, Yan, Saiying, Qiao, Zhihong, Li, Yun, Jiang, Ting, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wang, Shunyao, Peng, Huanhuan, Peng, Zhiyu, Xie, Xiaoyuan, Song, Lijie

مصطلحات موضوعية: Genetics, FOS Biological sciences

العلاقة: https://dx.doi.org/10.6084/m9.figshare.25824666Test; https://dx.doi.org/10.1002/uog.21951Test; https://dx.doi.org/10.1038/gim.2012.169Test; https://dx.doi.org/10.1016/j.ajhg.2015.01.021Test; https://dx.doi.org/10.1038/s41436-019-0704-xTest; https://dx.doi.org/10.1038/gim.2015.199Test; https://dx.doi.org/10.1038/gim.2016.69Test; https://dx.doi.org/10.1016/j.ajogmf.2022.100790Test; https://dx.doi.org/10.1038/s41436-019-0634-7Test; https://dx.doi.org/10.1007/s00439-020-02185-9Test; https://dx.doi.org/10.1038/s41436-021-01128-7Test; https://dx.doi.org/10.1136/jmg-2022-109112Test; https://dx.doi.org/10.1093/bioinformatics/btp324Test; https://dx.doi.org/10.1038/nmeth.1785Test; https://dx.doi.org/10.1038/ng.3679Test; https://dx.doi.org/10.3390/diagnostics13030560Test; https://dx.doi.org/10.1002/ajmg.a.33939Test; https://dx.doi.org/10.1136/jmedgenet-2017-105013Test; https://dx.doi.org/10.1007/s11042-022-14043-zTest

الإتاحة: https://doi.org/10.6084/m9.figshare.25824666.v110.6084/m9.figshare.2582466610.1002/uog.2195110.1038/gim.2012.16910.1016/j.ajhg.2015.01.02110.1038/s41436-019-0704-x10.1038/gim.2015.19910.1038/gim.2016.6910.1016/j.ajogmf.2022.10079010.1038/s41436-019-0634-710.1007/s00439-020-02185-910.1038/s41436-021-01128-710.1136/jmg-2022-10911210.1093/bioinformatics/btp32410.1038/nmeth.178510.1038/ng.367910.3390/diagnostics1303056010.1002/ajmg.a.3393910.1136/jmedgenet-2017-10501310.1007/s11042-022-14043-zTest
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_Recurrent_neural_network_for_predicting_absence_of_heterozygosity_from_low_pass_WGS_with_ultra-low_depth/25824666/1Test

المؤلفون: Qian, Yeqing, Sun, Yan, Guo, Xueqin, Song, Lijie, Sun, Yixi, Gao, Xiaoyang, Liu, Bei, Xu, Yuqing, Chen, Na, Chen, Min, Luo, Yuqin, Qiao, Zhihong, Fan, Linlin, Man, Jianfen, Zhang, Kang, Wang, Xiaoli, Rong, Tingting, Wang, Zhonghua, Liu, Fengxia, Zhao, Jing, Wei, Xiaoming, Chen, Minfeng, Peng, Zhiyu, Peng, Huanhuan, Sun, Jun, Dong, Minyue

مصطلحات موضوعية: Copy-number variation

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/60/10/933Test; http://dx.doi.org/10.1136/jmg-2022-109112Test

الإتاحة: https://doi.org/10.1136/jmg-2022-109112Test
http://jmg.bmj.com/cgi/content/short/60/10/933Test

المؤلفون: Yang, Ziying, Yang, Xu, Sun, Yan, Wang, Yaoshen, Song, Lijie, Qiao, Zhihong, Fang, Zhonghai, Wang, Zhonghua, Liu, Lipei, Chen, Yunmei, Yan, Saiying, Guo, Xueqin, Zhang, Junqing, Fan, Chunna, Liu, Fengxia, Peng, Zhiyu, Peng, Huanhuan, Sun, Jun, Chen, Wei

المصدر: Yang , Z , Yang , X , Sun , Y , Wang , Y , Song , L , Qiao , Z , Fang , Z , Wang , Z , Liu , L , Chen , Y , Yan , S , Guo , X , Zhang , J , Fan , C , Liu , F , Peng , Z , Peng , H , Sun , J & Chen , W 2023 , ' Test development, optimization and validation of a WGS pipeline for genetic disorders ' , BMC Medical Genomics , vol. 16 , ....

مصطلحات موضوعية: Whole genome sequencing, Genetic disorders, Clinical diagnosis, Bioinformatics pipelines

وصف الملف: application/pdf

العلاقة: https://orbit.dtu.dk/en/publications/5de3a7d1-8df7-4f82-9495-fc10940943e7Test

الإتاحة: https://doi.org/10.1186/s12920-023-01495-xTest
https://orbit.dtu.dk/en/publications/5de3a7d1-8df7-4f82-9495-fc10940943e7Test
https://backend.orbit.dtu.dk/ws/files/318108982/s12920_023_01495_x.pdfTest

المؤلفون: Liu, Yanqiu, Hao, Shengju, Guo, Xueqin, Fan, Linlin, Qiao, Zhihong, Wang, Yaoshen, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wei, Xiaoming, Peng, Huanhuan, Peng, Zhiyu, Sun, Yan, Song, Lijie

المصدر: Liu , Y , Hao , S , Guo , X , Fan , L , Qiao , Z , Wang , Y , Wang , X , Man , J , Wang , L , Wei , X , Peng , H , Peng , Z , Sun , Y & Song , L 2023 , ' Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs ' , BMC Medical Genomics , vol. 16 , 294 . https://doi.org/10.1186/s12920-023-01703-8Test

مصطلحات موضوعية: Low pass genome sequencing, Mosaic CNVs, Mosaic aneuploidies

وصف الملف: application/pdf

العلاقة: https://orbit.dtu.dk/en/publications/d91d5920-0a96-42bc-8ea7-2a022e08ecfbTest

الإتاحة: https://doi.org/10.1186/s12920-023-01703-8Test
https://orbit.dtu.dk/en/publications/d91d5920-0a96-42bc-8ea7-2a022e08ecfbTest
https://backend.orbit.dtu.dk/ws/files/340668636/s12920-023-01703-8.pdfTest

المؤلفون: Liu, Yanqiu, Mao, Liangwei, Huang, Hui, Li, Wei, Man, Jianfen, Zhang, Wenqian, Wang, Lina, Li, Long, Sun, Yan, Zhai, Teng, Guo, Xueqin, Du, Lique, Huang, Jin, Li, Hao, Wan, Yang, Wei, Xiaoming

المصدر: Liu , Y , Mao , L , Huang , H , Li , W , Man , J , Zhang , W , Wang , L , Li , L , Sun , Y , Zhai , T , Guo , X , Du , L , Huang , J , Li , H , Wan , Y & Wei , X 2023 , ' Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform ' , Human Genome Variation , vol. 10 , no. 1 , 15 . https://doi.org/10.1038/s41439-023-00238-9Test

مصطلحات موضوعية: MEDICAL GENETICS, AMERICAN-COLLEGE, FRAMEWORK, DISEASE, UPDATE, EXOME

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41439-023-00238-9Test
https://curis.ku.dk/portal/da/publications/clinical-diagnosis-of-genetic-disorders-at-both-singlenucleotide-and-chromosomal-levels-based-on-bgiseq500-platformTest(1c8475b2-5a48-4937-9e88-09a698efd6e2).html
https://curis.ku.dk/ws/files/347885165/s41439_023_00238_9.pdfTest

المؤلفون: Tang, Fei, Wang, Zhonghua, Sun, Yan, Fan, Linlin, Yang, Yun, Guo, Xueqin, Wang, Yaoshen, Yan, Saiying, Qiao, Zhihong, Li, Yun, Jiang, Ting, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wang, Shunyao, Peng, Huanhuan, Peng, Zhiyu, Xie, Xiaoyuan, Song, Lijie

المصدر: BMC Genomics; 5/14/2024, Vol. 25 Issue 1, p1-10, 10p

مصطلحات موضوعية: RECURRENT neural networks, WHOLE genome sequencing, X chromosome, GENETIC testing, HETEROZYGOSITY, HAPLOTYPES

المؤلفون: Chen, Yajun, Zhong, Rui, Guo, Xueqin, Chen, Shiping, Wang, Yan, Li, Jiufeng, Huang, Lichan, Li, Yi, Wang, Xiaoling, Wu, Liting, Huang, Mubao, Huang, Xiaoyan, Fang, Junbin, Chu, Zhongjie, Sun, Jun, Peng, Zhiyu, Sun, Yan

المصدر: Journal of Medical Screening; Mar2024, Vol. 31 Issue 1, p53-57, 5p

مصطلحات موضوعية: SEQUENCE analysis, MEDICAL screening, GENOTYPES, THALASSEMIA, CARRIER state (Communicable diseases), HIGH school students, SYMPTOMS

مصطلحات جغرافية: CHINA

المؤلفون: Zhou, Guiju, Zhou, Meizhen, Zeng, Fanwei, Zhang, Ningzhi, Sun, Yan, Qiao, Zhihong, Guo, Xueqin, Zhou, Shihao, Yun, Guojun, Xie, Jiansheng, Wang, Xiaodan, Liu, Fengxia, Fan, Chunna, Wang, Yaoshen, Fang, Zhonghai, Tian, Zhongming, Dai, Wentao, Sun, Jun, Peng, Zhiyu, Song, Lijie

المصدر: Zhou , G , Zhou , M , Zeng , F , Zhang , N , Sun , Y , Qiao , Z , Guo , X , Zhou , S , Yun , G , Xie , J , Wang , X , Liu , F , Fan , C , Wang , Y , Fang , Z , Tian , Z , Dai , W , Sun , J , Peng , Z & Song , L 2022 , ' Performance characterization of PCR-free whole genome sequencing for clinical diagnosis ' , Medicine (United States) , vol. ....

مصطلحات موضوعية: Clinical diagnosis, Deoxyribonucleic acid input, Polymerase chain reaction-free, Sequencing depth and coverage, Whole genome sequencing

وصف الملف: application/pdf

العلاقة: https://orbit.dtu.dk/en/publications/e3601dcc-7fca-4864-9fe9-9f94e3f34a6cTest

الإتاحة: https://doi.org/10.1097/MD.0000000000028972Test
https://orbit.dtu.dk/en/publications/e3601dcc-7fca-4864-9fe9-9f94e3f34a6cTest
https://backend.orbit.dtu.dk/ws/files/275915390/Performance_characterization_of_PCR_free_whole.12.pdfTest

المؤلفون: Guo, Xueqin¹, Li, Xin¹, Wang, Yuhan^1,2, Wang, Yumei¹, Jin, Huan¹, Xiao, Fang¹, Xiang, Yuting¹, Xu, Chenzi¹, Wang, Yangjing^1,2, He, Jia¹, Xiong, Lijuan¹

المصدر: Journal of Nursing Management. 11/29/2023, p1-8. 8p.

مصطلحات موضوعية: *KRUSKAL-Wallis Test, *NURSE administrators, *NURSES' attitudes, *LEADERSHIP, *CROSS-sectional method, *MULTIPLE regression analysis, *MANN Whitney U Test, *BEHAVIOR disorders, *PSYCHOLOGY of nurses, *SEX distribution, *DESCRIPTIVE statistics, *EMPLOYMENT, *MANAGEMENT styles, *DATA analysis software, *EDUCATIONAL attainment

المؤلفون: Hu, Zhangwei, Guo, Xueqin, Chen, Lin, Lei, Wenbin

المصدر: Head & Neck; Nov2023, Vol. 45 Issue 11, p2809-2818, 10p

مصطلحات موضوعية: LARYNGECTOMY, NEGATIVE-pressure wound therapy, HEALING, WOUND healing, FISTULA, LOG-rank test, PROGNOSIS