Method for quickly annotating gene mutations of human beings

Abstract

The invention is applicable to the technical field of medical genetics, and provides a novel method for quickly annotating genes and mutations by constructing an information query database with complete annotations. The method comprises the following steps: (1) simulating to generate three potential mononucleotide variations of each base site of a human genome, and integrating the variations of different populations in a plurality of common databases to construct a database including all possible gene variations of the human genome; (2) further integrating common genome annotation informationon the basis, and establishing a genome annotation library including all variation information and annotation information of human beings into a whole and more than 9 billion pieces of information; and (3) quickly completing information extraction, pathogenicity prediction, visualization and other content in a query mode according to the database. According to the method, a complex gene annotationprocess is changed into a one-stop query process, so that the problems of non-uniform formats, complicated operation and low efficiency caused by matching different gene variations in multiple databases one by one are avoided.

Description

technical field [0001] The invention belongs to the technical field of medical genetics, and in particular relates to a new method for quickly annotating genes and variations by constructing a complete annotation and information query database. Background technique [0002] In the past decade, high-throughput sequencing technology has triggered a large-scale revolution in the detection of human genome variation. Whole-exome and whole-genome sequencing technologies are currently the most common tools for studying human single-gene genetic diseases and potential pathogenic variants and genes of complex diseases including cancer. However, only a small number of disease-associated gene variants in coding regions are currently known. In order to better explain human variation and identify pathogenic variants, more and more variation-level databases and tools have been developed, including mutation frequency, mutation harmfulness prediction, gene intolerance score to mutation, et...

AI Technical Summary

Problems solved by technology

Despite significant advances in the development of human genomics data and tools, these tools are distributed across different online sites or databases and cannot comprehensively assess the clinical significance and functional prediction of genetic variants

Integrating multiple databases and tools at the same time is a time-consuming and labor-intensive task for clinicians, geneticists and biologists

Images