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Applications of long-read sequencing to Mendelian genetics
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder remain unsolved after complete clinical evaluation....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266321/ https://www.ncbi.nlm.nih.gov/pubmed/37316925 http://dx.doi.org/10.1186/s13073-023-01194-3 |