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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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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2021
Matèries:
Accés en línia: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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