Optimized overlapping hybrid sequencing method

Abstract

The invention discloses an optimized overlapping hybrid sequencing method, which includes the following steps: on the basis of the general law that sequencing depth follows negative binomial distribution and sequencing errors follow binomial distribution in the process of sequencing, a depth model of hybrid sequencing is put forward, moreover, the optimal depth of hybrid sequencing is calculated and designed on the basis of the model, and sequencing cost is effectively reduced by reducing redundant sequencing depth; a grouped overlapping hybrid sequencing method based on rare mutation distribution probabilities is put forward, and compared with direct sequencing, the grouping strategy can greatly reduce the demand of sequencing on data volume and increase the efficiency of hybrid sequencing; a sequencing cost model is established, and on the basis of the model, an optimal overlapping hybrid sequencing scheme is chosen to screen rare mutation carriers. The optimized overlapping hybrid sequencing method reduces the sequencing cost of screening rare mutation carriers to the max.

Description

technical field [0001] The invention belongs to the field of gene sequencing, in particular to an optimized overlapping hybrid sequencing method. Background technique [0002] Using high-throughput DNA sequencing technology to analyze the relationship between genetic mutations and human diseases is an important method in biomedical research, and screening and detection of rare DNA mutations is the focus of current research. In order to discover rare mutations in the human genome and explore the relationship between rare mutations and diseases, a large number of individual DNA samples need to be sequenced and analyzed. In order to improve sequencing efficiency and make full use of the sequencing capabilities of existing sequencing instruments, it is necessary to mix multiple samples together for simultaneous sequencing, that is, hybrid sequencing. [0003] The key to mixed sequencing is how to separate DNA sequencing fragments from different samples from the sequencing resul...

AI Technical Summary

Problems solved by technology

[0005] However, the existing overlapping sequencing methods still have the following problems: it is impossible to determine what kind of sequencing depth is needed to ensure accurate determination of positive samples and minimize the sequencing cost? How many mixing pools are needed? How are individual samples assigned to individual pools overlappingly? How to choose the best sequencing solution?

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