Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families
Author:
Affiliation:
1. Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Human Genetics , De Boelelaan 1117, Amsterdam , The Netherlands
2. Amsterdam Reproduction and Development , Amsterdam , The Netherlands
Publisher
Oxford University Press (OUP)
Link
https://academic.oup.com/clinchem/advance-article-pdf/doi/10.1093/clinchem/hvae040/57368519/hvae040.pdf
Reference8 articles.
1. Expanding access to noninvasive prenatal diagnosis for monogenic conditions to consanguineous families;Hanson;Clin Chem,2024
2. Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage;Fokstuen;Clin Genet,2023
3. Non-invasive prenatal diagnosis (NIPD): current and emerging technologies;Hanson;Extracell Vesicles Circ Nucleic Acids,2023
4. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus;Lo;Sci Transl Med,2010
5. Noninvasive prenatal testing for β-thalassemia by targeted nanopore sequencing combined with relative haplotype dosage (RHDO): a feasibility study;Jiang;Sci Rep,2021
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