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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Clinical whole genome sequencing has enabled the discovery of potentially pathogenic noncoding variants in the genomes of rare disease patients with a prior history of negative genetic testing. However, interpreting the functional consequences of noncoding variants and distinguishing those that cont...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9085742/ https://www.ncbi.nlm.nih.gov/pubmed/35534523 http://dx.doi.org/10.1038/s41598-022-11589-8 |