Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

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作者： Hui-Lin,Chin ^[1] ; Miles C,Benton ^[2] ; Lin,Yang ^[3] ; Kok Siong,Poon ^[3] ; Karen M L,Tan ^[4] ; Saumya S,Jamuar ^[4] ; Roger,Foo ^[5] ; Hai Yang,Law ^[6] ; Denise Li-Meng,Goh ^[7] ; Samuel S,Chong ^[1] ; Paola Florez,de Sessions ^[2]

作者单位： Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore. ^[1] Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ^[2] Oxford Nanopore Technologies, Singapore, Singapore. ^[3] Department of Laboratory Medicine, National University Hospital, Singapore, Singapore. ^[4] Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore. ^[5] Cardiovascular Research Institute, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ^[6] DNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore. ^[7] Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ^[8]

关键词 Beta-thalassemia Carrier testing Elevated HbA2 Long read sequencing Modifier variants

主题词人类(Humans);妊娠(Pregnancy);女(雌)性(Female);β地中海贫血(beta-Thalassemia);遗传咨询(Genetic Counseling);突变(Mutation);α地中海贫血(alpha-Thalassemia);杂合子(Heterozygote)

DOI 10.1002/mgg3.2285

PMID 37740604

发布时间 2024-01-30

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Molecular genetics & genomic medicine

2024年12卷1期

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Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Molecular genetics & genomic medicine

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Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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