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首页> Human genomics> Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

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作者： Qinlin,Huang ^[1] ; Juan,Wen ^[1] ; Hongyun,Zhang ^[1] ; Yanling,Teng ^[1] ; Wen,Zhang ^[1] ; Huimin,Zhu ^[1] ; Desheng,Liang ^[1] ; Lingqian,Wu ^[2] ; Zhuo,Li ^[3]

作者单位： Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. ^[1] Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. wulingqian@sklmg.edu.cn.;Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital, Changsha, Hunan, China. wulingqian@sklmg.edu.cn. ^[2] Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. lizhuo@sklmg.edu.cn. ^[3]

关键词 Carrier frequencies Carrier screening Pathogenic variants Recessive disease Single-gene disorders

主题词人类(Humans);女(雌)性(Female);中国(China);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);男(雄)性(Male);妊娠(Pregnancy);基因检测(Genetic Testing);杂合子(Heterozygote);随访研究(Follow-Up Studies);成年人(Adult);遗传性疾病, 先天性(Genetic Diseases, Inborn)

DOI 10.1186/s40246-024-00680-y

PMID 39380106

发布时间 2024-11-07

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Human genomics

Human genomics

2024年18卷1期

111页

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