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Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis
AIM: Families with an adverse history of monogenic disease focus on single‐gene diagnosis instead of low‐depth whole‐genome sequence, during subsequent pregnancies. The aim of this study was to assess the potential usefulness of low‐depth whole‐genome sequencing (copy number variant sequencing [CNV‐...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons Australia, Ltd
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986431/ https://www.ncbi.nlm.nih.gov/pubmed/33474820 http://dx.doi.org/10.1111/jog.14627 |