Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the CNV databases are predominantly composed of European and non...

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Enregistré dans:
Détails bibliographiques
Publié dans:Genet Mol Biol
Auteurs principaux: de Godoy, Victória Cabral Silveira Monteiro, Bellucco, Fernanda Teixeira, Colovati, Mileny, de Oliveira-Junior, Hélio Rodrigues, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel
Format: Artigo
Langue:Inglês
Publié: Sociedade Brasileira de Genética 2020
Sujets:
Human and Medical Genetics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783508/
https://ncbi.nlm.nih.gov/pubmed/33306777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2019-0218
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