Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth

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

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Autor: Xinyao Zhou, Tao Duan, Fengyu Wu, Zhonghua Wang, Shuge Cui, Gang Zou, Shiyi Xiong, Jian Wang, Fanwei Zeng, Zhiyu Peng, Luming Sun, Xiu-Xiu Wei, Ziying Yang, Ya Xing, Yingjun Yang, Jun Sun, Lipei Liu, Yun Zhang, Yaoshen Wang, Saiying Yan, Liu Xiaoyu, Jia Zhou, Fengxia Liu, Xing Wei

Publikováno v: Genes
Genes, Vol 12, Iss 376, p 376 (2021)
Zhou, J, Yang, Z, Sun, J, Liu, L, Zhou, X, Liu, F, Xing, Y, Cui, S, Xiong, S, Liu, X, Yang, Y, Wei, X, Zou, G, Wang, Z, Wei, X, Wang, Y, Zhang, Y, Yan, S, Wu, F, Zeng, F, Wang, J, Duan, T, Peng, Z & Sun, L 2021, ' Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies : A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing ', Genes, vol. 12, no. 3, 376 . https://doi.org/10.3390/genes12030376
Volume 12
Issue 3

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257da70d020e95f36d94de91ef790622
http://europepmc.org/articles/PMC7999180

Identification of key mRNAs and microRNAs in the pathogenesis and progression of osteoarthritis using microarray analysis

Autor: Jingrui Wang, Saiying Yan, Bing Bai, Guobin Liu, Hua Li, Zanmei Xu

Publikováno v: Molecular medicine reports. 16(4)

Osteoarthritis (OA) is a common type of disease affecting the joints that results from the breakdown of joint cartilage and the underlying bone; currently, its pathogenesis is still unclear. The aim of the present study was to identify key mRNAs and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063546c581c1e5c62da8058b07d2397a
https://pubmed.ncbi.nlm.nih.gov/28849222