Whole exome sequencing: a new era in prenatal diagnostics
Abstract Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for the detection of CNVs in clinical prena...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2026-02-01
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| Edice: | Journal of Translational Medicine |
| Témata: | |
| On-line přístup: | https://doi.org/10.1186/s12967-026-07899-4 |
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