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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Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genet Mol Biol
Hauptverfasser: de Godoy, Victória Cabral Silveira Monteiro, Bellucco, Fernanda Teixeira, Colovati, Mileny, de Oliveira-Junior, Hélio Rodrigues, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade Brasileira de Genética 2020
Schlagworte:
Human and Medical Genetics
Online Zugang: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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