Evaluation method for judging rare hereditary diseases

Abstract

The invention discloses an evaluation method for judging rare hereditary diseases, which comprises the steps of deep phenotype analysis, whole exon group sequencing, gene mutation identification and filtration, mutation optimization combined with a genetic pattern and a disease phenotype, whole exon group sequencing and human phenotype ontology. Clinical doctors can be assisted to judge and evaluate pathogenic factors of rare hereditary diseases in time, the evaluable rate of the rare hereditary diseases is increased, a basis is provided for determining appropriate treatment measures and clinical management strategies, genetic counseling and prenatal evaluation are provided for families, birth of similar child patients is reduced, and economic burdens of the families and the society are relieved. Therefore, the method has important significance for judging the hereditary diseases with high phenotypic heterogeneity and low morbidity.

Description

technical field [0001] The invention belongs to the field of judgment and evaluation of genetic diseases and pathogenic genes, and in particular relates to an evaluation method for judging rare genetic diseases with unknown causes. Background technique [0002] At present, the pathogenesis and genetic mechanism of about 4,600 difficult and rare diseases are relatively clear in world medicine, but more than 50% of patients with rare genetic diseases have not been clearly diagnosed. Compared with common diseases, the level of research on rare and intractable diseases is obviously lagging behind. Due to the limited understanding of the pathogenesis of difficult and rare diseases, the methods of diagnosis and treatment are insufficient. Traditionally, clinical laboratory judgment assessment techniques for rare genetic disorders of unknown cause have included neuroimaging, metabolic screening, genetic testing (eg, karyotype, chromosomal microarray analysis), extraclinical Exome...

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Problems solved by technology

[0006] At the current stage, the judgment cycle of genetic diseases is long, and the probability of judgment and evaluation is low. In addition, our understanding of the pathogenic mechanism of disease genes is not sufficient. The same gene can cause different diseases in different ways, and the shared population database The lack of sufficient Chinese population reference data makes it difficult for us to analyze the clinical significance of the variation

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