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 500kb are st...

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Библиографические подробности

Главные авторы:	Armand eValsesia, Aurélien eMace, Sébastien eJacquemont, Jacques S Beckmann, Zoltán eKutalik
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2013-05-01
Серии:	Frontiers in Genetics
Предметы:	Genomics bioinformatics Sequencing personalized medicine copy number variation genome-wide association studies
Online-ссылка:	http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00092/full
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