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Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers

The development and innovation of next generation sequencing (NGS) and the subsequent analysis tools have gain popularity in scientific researches and clinical diagnostic applications. Hence, a systematic comparison of the sequencing platforms and variant calling pipelines could provide significant...

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Detalles Bibliográficos
Autores principales: Chen, Jiayun, Li, Xingsong, Zhong, Hongbin, Meng, Yuhuan, Du, Hongli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597787/
https://www.ncbi.nlm.nih.gov/pubmed/31249349
http://dx.doi.org/10.1038/s41598-019-45835-3