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SPDI: data model for variants and applications at NCBI
MOTIVATION: Normalizing sequence variants on a reference, projecting them across congruent sequences and aggregating their diverse representations are critical to the elucidation of the genetic basis of disease and biological function. Inconsistent representation of variants among variant callers, l...
Guardat en:
| Publicat a: | Bioinformatics |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7523648/ https://ncbi.nlm.nih.gov/pubmed/31738401 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btz856 |
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