This sequencing project will help enable earlier and more effective diagnosis and treatment of childhood disorders—informing preventative and pre-emptive management to reduce complications and improve survival rates and quality of life. Abstract Disorders of childhood are highly penetrant, heritable, often polygenic and have lifelong impact, especially as advances in medicine have resulted in improved survival into adulthood. These disorders engender a high burden on patients, families and healthcare resources across a lifetime. Early diagnosis is essential to inform preventive and pre-emptive management to reduce complications and improve survival and quality of life. The yield from conventional genetic testing is suboptimal in disorders with genetic heterogeneity. Whole genome sequencing (GS) provides comprehensive genetic characterization by exploring both rare and common alterations not only the protein-coding regions but also variants in the "dark matter" of the genome, complex structural variants, tandem repeat expansions, and regulatory variants in the noncoding genome. The goal of the Precision Child Health (PCH) – Comprehensive Sequencing for Childhood Life-long Onset...
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Precision Child Health – Comprehensive Sequencing for Childhood Life-long Disorders is published on Canadian Precision Health Initiative.