| 简介 |
Systems and methods for high fidelity sequencing and identification of rare mutations at dilute concentrations in a sample are described herein. In various aspects, the use of specialized library preparation techniques including adapter ligation conditions and hybrid capture enrichment panels are used along with controls to increase yield of sequence-ready molecules and identify and minimize contamination and errors. Systems and methods also relate to analyzing sequencing data to differentiate true variants from false positives using ensembles and a quasi-maximum likelihood model. |
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