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...
المؤلفون الرئيسيون: | , , , , , , , , |
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التنسيق: | مقال |
اللغة: | English |
منشور في: |
Frontiers Media S.A.
2023-04-01
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سلاسل: | Frontiers in Genetics |
الموضوعات: | |
الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full |