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Challenges in identifying large germline structural variants for clinical use by long read sequencing
Genomic structural variations, previously considered rare events, are widely recognized as a major source of inter-individual variability and hence, a major hurdle in optimum patient stratification and disease management. Herein, we focus on large complex germline structural variations and present c...
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| Publicado en: | Comput Struct Biotechnol J |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Research Network of Computational and Structural Biotechnology
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7026727/ https://ncbi.nlm.nih.gov/pubmed/32099591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2019.11.008 |
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