Multiplex structural variant detection by whole-genome mapping and nanopore sequencing

Abstract Identification of structural variants (SVs) breakpoints is important in studying mutations, mutagenic causes, and functional impacts. Next-generation sequencing and whole-genome optical mapping are extensively used in SV discovery and characterization. However, multiple platforms and comput...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Lahari Uppuluri, Yilin Wang, Eleanor Young, Jessica S. Wong, Heba Z. Abid, Ming Xiao
التنسيق: مقال
اللغة:English
منشور في: Nature Portfolio 2022-04-01
سلاسل:Scientific Reports
الوصول للمادة أونلاين:https://doi.org/10.1038/s41598-022-10483-7