Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage
Published inClinical genetics, vol. 104, no. 5, p. 505-515
Publication date2023-11
First online date2023-07-12
Abstract
Keywords
- Cell-free circulating DNA
- Consanguinity
- Fetal DNA
- Monogenic disease
- Noninvasive prenatal diagnosis
- Pregnancy
- Female
- Humans
- Noninvasive Prenatal Testing
- Prenatal Diagnosis / methods
- Genotype
- DNA / genetics
Affiliation entities
Research groups
Citation (ISO format)
FOKSTUEN, Siv et al. Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage. In: Clinical genetics, 2023, vol. 104, n° 5, p. 505–515. doi: 10.1111/cge.14399
Main files (1)
Article (Published version)
Secondary files (4)
Appendix - Supplementary figures 1-5
Supplemental data - Data S1. Pangenomic SNP panel.
Supplemental data - Data S2. Inferring haplotypes.
Identifiers
- PID : unige:173394
- DOI : 10.1111/cge.14399
- PMID : 37434539
Additional URL for this publicationhttps://onlinelibrary.wiley.com/doi/10.1111/cge.14399
Journal ISSN0009-9163
