Advancing Whole-Genome Sequencing (WGS) in Clinical Genetic Testing for Human Diseases

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ORIGINAL RESEARCH

Published on 15 Aug 2022

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy

Xianxian Liu
Jiusheng Zheng
Siming Xin
Yang Zeng
Xiaoying Wu
Xiaoming Zeng
Hua Lai
Yang Zou

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy

doi 10.3389/fgene.2022.941027

2,446 views
6 citations

ORIGINAL RESEARCH

Published on 01 Jul 2022

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype

Jia Li
Jiaqi Lu
Fengxia Su
Jiexia Yang
Jia Ju
Yu Lin
Jinjin Xu
Yiming Qi
Yaping Hou
19 more
Aihua Yin

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype

doi 10.3389/fgene.2022.911369

3,726 views
5 citations

ORIGINAL RESEARCH

Published on 29 Apr 2022

Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns

Jiale Xiang
Hongfu Zhang
Xiangzhong Sun
Junqing Zhang
Zhenpeng Xu
Jun Sun
Zhiyu Peng

Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns

doi 10.3389/fgene.2022.883617

2,412 views
5 citations

ORIGINAL RESEARCH

Published on 10 Feb 2022

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing

Jia Li
Jia Ju
Qiang Zhao
Weiqiang Liu
Yuying Yuan
Qiang Liu
Lijun Zhou
Yuan Han
Wen Yuan
17 more
Xin Jin

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing

doi 10.3389/fgene.2022.802865

4,219 views
8 citations

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Frontiers in Genetics

Human and Medical Genomics

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