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Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population
BACKGROUND: Next-generation sequencing has allowed for the identification of different genetic variations, which are known to contribute to diseases. Of these, insertions and deletions are the second most abundant type of variations in the genome, but their biological importance or disease associati...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657090/ https://www.ncbi.nlm.nih.gov/pubmed/31340865 http://dx.doi.org/10.1186/s13073-019-0656-4 |