The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are...

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Detalles Bibliográficos
Autores principales: Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667386/
https://www.ncbi.nlm.nih.gov/pubmed/23750167
http://dx.doi.org/10.3389/fgene.2013.00092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667386/
https://www.ncbi.nlm.nih.gov/pubmed/23750167
http://dx.doi.org/10.3389/fgene.2013.00092

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