The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery

Identification of genetic variants via high-throughput sequencing (HTS) technologies has been essential for both fundamental and clinical studies. However, to what extent the genome sequence composition affects variant calling remains unclear. In this study, we identified 63,897 multi-copy sequences...

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Detalles Bibliográficos
Autores principales: Sun, Jing, Zhang, Yanfang, Wang, Minhui, Guan, Qian, Yang, Xiujia, Ou, Jin Xia, Yan, Mingchen, Wang, Chengrui, Zhang, Yan, Li, Zhi-Hao, Lan, Chunhong, Mao, Chen, Zhou, Hong-Wei, Hao, Bingtao, Zhang, Zhenhai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8377240/
https://www.ncbi.nlm.nih.gov/pubmed/32827758
http://dx.doi.org/10.1016/j.gpb.2019.05.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8377240/
https://www.ncbi.nlm.nih.gov/pubmed/32827758
http://dx.doi.org/10.1016/j.gpb.2019.05.004

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