ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

Technological advances in Next-Generation Sequencing dramatically increased clinical efficiency of genetic testing, allowing detection of a wide variety of variants, from single nucleotide events to large structural aberrations. Whole Genome Sequencing (WGS) has allowed exploration of areas of the g...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun
التنسيق: مقال
اللغة:English
منشور في: Frontiers Media S.A. 2023-04-01
سلاسل:Frontiers in Genetics
الموضوعات:
الوصول للمادة أونلاين:https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full