Carregant...

ClassifyCNV: a tool for clinical annotation of copy-number variants

Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements. Accurate identification and clinical annotation of CNVs is essential, however, manual evalu...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Gurbich, Tatiana A., Ilinsky, Valery Vladimirovich
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7683568/
https://ncbi.nlm.nih.gov/pubmed/33230148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-76425-3
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!