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The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
BACKGROUND: Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of copy number variation (CNV). METHODS: To iden...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236547/ https://www.ncbi.nlm.nih.gov/pubmed/32429945 http://dx.doi.org/10.1186/s12920-020-0726-x |