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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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Sci Rep
Hauptverfasser: Gurbich, Tatiana A., Ilinsky, Valery Vladimirovich
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
Schlagworte:
Online Zugang: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
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