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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Armand eValsesia, Aurélien eMace, Sébastien eJacquemont, Jacques S Beckmann, Zoltán eKutalik
التنسيق: مقال
اللغة:English
منشور في: Frontiers Media S.A. 2013-05-01
سلاسل:Frontiers in Genetics
الموضوعات:
الوصول للمادة أونلاين:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00092/full