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Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband, which is a promising strategy for pregnancies at risk of an inherited single-gene disorder. Here, we aimed to expand the scope of single-gene disorders that NIPT using linked-read direct haplotyping would be ap...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7940412/ https://ncbi.nlm.nih.gov/pubmed/33235377 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00759-9 |
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