Publications by authors named "Jianfen Man"

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Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases.
Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Jianfen Man

Clin Transl Med· July 2024

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Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.
Fei Tang, Zhonghua Wang, Yan Sun, Linlin Fan, Yun Yang, Jianfen Man

BMC Genomics· May 2024

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Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.
Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Jianfen Man

BMC Med Genomics· November 2023

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Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
Yeqing Qian, Yan Sun, Xueqin Guo, Lijie Song, Yixi Sun, Jianfen Man

J Med Genet· October 2023

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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man

Hum Genome Var· May 2023

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Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
Yan Sun, Jing Yuan, Limin Wu, Min Li, Xiaoli Cui, Jianfen Man

Medicine (Baltimore)· March 2019

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Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Yan Sun, Jianfen Man, Yang Wan, Gao Pan, Lique Du

Sci Rep· August 2018

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MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
Xin Zhao, Xiaobo Li, Zhengmao Hu, Lei Liu, Yongzhi Xie, Jianfen Man

Brain· October 2016

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man

PLoS One· May 2016

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Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man

PLoS One· May 2016

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Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man

PLoS One· December 2015

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Automated and fast building of three-dimensional RNA structures.
Yunjie Zhao, Yangyu Huang, Zhou Gong, Yanjie Wang, Jianfen Man

Sci Rep· March 2013

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