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Oncology Letters|March 15, 2019
Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case reportYanzhi Cui, Yanyan Wang, Ningzhi Zhang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling]Hui Huang, Yiping Shen, Weihong Gu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis]Jun Sun, Yi Huang, Xiaodong Wang, et al.
BMC Genomics|February 10, 2026
Generation of quartet reference materials for preimplantation genetic testing for structural rearrangementsNan Sun, Wenxin Zhang, Dandan Yu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection]Xiufeng Zeng, Zhenpeng Xu, Hui Huang, et al.
BMC Genomics|May 14, 2024
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depthFei Tang, Zhonghua Wang, Yan Sun, et al.
Molecular Genetics & Genomic Medicine|June 6, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technologyJianchao Zheng, Hongyun Zhang, Santasree Banerjee, et al.
BMC Medical Genomics|April 5, 2023
Test development, optimization and validation of a WGS pipeline for genetic disordersZiying Yang, Xu Yang, Yan Sun, et al.
Medicine|April 22, 2022
Performance characterization of PCR-free whole genome sequencing for clinical diagnosisGuiju Zhou, Meizhen Zhou, Fanwei Zeng, et al.
BMC Medical Genomics|April 14, 2021
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disordersYan Sun, Fengxia Liu, Chunna Fan, et al.
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