Direct comparison of performance of single nucleotide variant calling in human genome with alignment-based and assembly-based approaches

Complementary to reference-based variant detection, recent studies revealed that many novel variants could be detected with de novo assembled genomes. To evaluate the effect of reads coverage and the accuracy of assembly-based variant calling, we simulated short reads containing more than 3 million...

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Detalles Bibliográficos
Autores principales: Wu, Leihong, Yavas, Gokhan, Hong, Huixiao, Tong, Weida, Xiao, Wenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591230/
https://www.ncbi.nlm.nih.gov/pubmed/28887485
http://dx.doi.org/10.1038/s41598-017-10826-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591230/
https://www.ncbi.nlm.nih.gov/pubmed/28887485
http://dx.doi.org/10.1038/s41598-017-10826-9

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