A unifying model that explains the origins of human inverted copy number variants.

With the release of the telomere-to-telomere human genome sequence and the availability of both long-read sequencing and optical genome mapping techniques, the identification of copy number variants (CNVs) and other structural variants is providing new insights into human genetic disease. Different...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Bonita J Brewer, Maitreya J Dunham, M K Raghuraman
التنسيق: مقال
اللغة:English
منشور في: Public Library of Science (PLoS) 2024-01-01
سلاسل:PLoS Genetics
الوصول للمادة أونلاين:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011091&type=printable