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Exome variant discrepancies due to reference-genome differences
Despite release of the GRCh38 human reference genome more than seven years ago, GRCh37 remains more widely used by most research and clinical laboratories. To date, no study has quantified the impact of utilizing different reference assemblies for the identification of variants associated with rare...
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| Publicado no: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8322936/ https://ncbi.nlm.nih.gov/pubmed/34129815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.05.011 |
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