Method and device for detecting thalassemia gene variation

Abstract

The embodiment of the invention discloses a method and a device for detecting thalassemia gene variation and a computer readable storage medium, which are used for detecting most variation related tothalassemia by utilizing one-time sequencing and predicting a phenotypic result of an individual thalassemia disease according to a variation detection result. The method provided by the embodiment ofthe invention comprises the following steps: acquiring copy number variation information related to thalassemia, point mutation information related to thalassemia and whole genome sequencing data ofa to-be-detected sample; obtaining a copy number variation result of the to-be-detected sample according to the copy number variation information related to thalassemia and the whole genome sequencingdata of the to-be-detected sample; obtaining a point mutation result of the to-be-detected sample according to the point mutation information related to the thalassemia disease and the whole genome sequencing data of the to-be-detected sample; and obtaining a phenotypic result for predicting thalassemia according to the copy number variation result and the point mutation result.

Description

technical field [0001] The invention relates to the field of thalassemia, in particular to a method for detecting thalassemia gene variation, a detection device, and a computer-readable storage medium. Background technique [0002] Thalassemia, referred to as thalassemia, is a hemoglobin disease. Thalassemia is widely distributed in southern China. There are various types of thalassemia variants, and there are 504 types included in the HbVar database alone. In the past, low-throughput methods such as GAP-PCR and reverse dot blot (RDB) methods were commonly used in blood analysis, and generally only detect 3-5 common Chinese people. Alpha (alpha, α) thalassemia deletion type copy number variation and 17-25 common beta (beta, β) thalassemia point mutations in Chinese, there are more rare variant types that have not been detected by these tests Coverage, resulting in easy missed detection. Contents of the invention [0003] Embodiments of the present invention provide a m...

AI Technical Summary

Problems solved by technology

In the past, low-throughput methods such as GAP-PCR and reverse dot blot (RDB) methods were commonly used in blood analysis, and generally only detect 3-5 common Chinese people. Alpha (alpha, α) thalassemia deletion type copy number variation and 17-25 common beta (beta, β) thalassemia point mutations in Chinese, there are more rare variant types that have not been detected by these tests Coverage, resulting in easy missed detection

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