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Accuracy and efficiency of germline variant calling pipelines for human genome data
Advances in next-generation sequencing technology have enabled whole genome sequencing (WGS) to be widely used for identification of causal variants in a spectrum of genetic-related disorders, and provided new insight into how genetic polymorphisms affect disease phenotypes. The development of diffe...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678823/ https://www.ncbi.nlm.nih.gov/pubmed/33214604 http://dx.doi.org/10.1038/s41598-020-77218-4 |