Method, device and equipment for inbreeding family identification based on whole exon data

Abstract

The invention relates to a whole exon data-based inbreeding family identification method, device and equipment, and belongs to the technical field of medical identification. The method comprises the following steps: obtaining exon sequences of sample genome DNA, and carrying out preset step treatment on the exon sequences to obtain a genotyping result corresponding to each sample genome DNA; on the basis of the genotyping result, obtaining the ROH data by using a preset tool; based on the genotyping result, utilizing a preset tool to obtain an inbreeding coefficient; and according to the ROH data and the inbreeding coefficient, obtaining an estimation result of whether the sample belongs to the inbreeding family or not. According to the method, the characteristic that rare diseases are usually more easily from recessive homozygosis of the inbreeding family is utilized, whether an unknown sample belongs to the inbreeding family or not is rapidly identified by integrating two genetic parameters (inbreeding coefficient and ROH) of whole exon sequencing data; the method is simple and rapid to operate, and a target sample can be rapidly separated and identified.

Description

technical field [0001] The invention belongs to the technical field of medical identification, and in particular relates to an identification method, device and equipment for close relatives based on whole-exon data. Background technique [0002] In recent years, with the development of sequencing technology and the reduction of price, Whole-exome-sequencing (WES) technology has been increasingly used in clinical rare disease monitoring and mutation screening in hospitals. In the process of clinical detection, since most of the functional variations are concentrated in exon sequences, and exon sequencing is easier to detect rare variations, a large number of historical samples or samples with unknown information can be obtained by this technology. Functional mutation data. [0003] However, due to incomplete or missing records of sequencing samples, the sample information of many probands with rare diseases is unknown. At the same time, the existing variation analysis proc...

AI Technical Summary

Problems solved by technology

This situation has caused some precious disease samples to be unable to be used in subsequent analysis and research due to unclear information, resulting in waste of samples and loss of research funds

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