DiaWES: Mygenostics Whole Exome Sequencing

Family whole exome sequencing refers to the whole exome sequencing and analysis of the nuclear family (parents and children) or other immediate family members (such as grandparents), so that the source and inheritance pattern of pathogenic mutations can be more clearly traced through the comparative analysis of family genes.
Feaures:
Inspected population: high-risk population with family genetic history, or individuals with uncertain single test results.
Comparative analysis: By comparing genetic differences between immediate family members, precise identification of disease-related mutations and their inheritance patterns (such as autosomal recessive spontaneous mutations, etc.)

High diagnostic accuracy: It helps to distinguish benign and pathogenic mutations in the family, identify the source of variation, and improve the interpretation accuracy.

Application scenario: It is suitable for rare genetic diseases that are difficult to diagnose, especially for some cases that are difficult to find or interpret by routine hospital examinations..
Limitations:

relatively high cost and cooperation of family members are required.

Whole Genome Sequencing

Genome sequencing analyzes the entirety of an individual’s DNA, which is known as the genome, including the protein-coding and non-coding regions across ~20,000 genes. This comprehensive view can enable the greatest chance of uncovering a genetic diagnosis.
Peculiarity:
Provides a high-resolution, base-by-base view of the genome;

Captures both large and small variants that might be missed with targeted approaches;

Identifies potential causative variants for further follow-up studies of gene expression and regulation mechanisms;

Delivers large volumes of data in a short amount of time to support assembly of novel genomes.
limitations:

High cost and cooperation of family members are required

Clinical symptoms Age Basic information

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