Unmasking the Genetic Code: A Pilot Study on Copy Number Variants and Congenital Heart Disease in South Africa
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For decades, scientists have strived to decipher the intricate language of our genes. The discovery of the genetic code, the blueprint for life, marked a monumental leap in our understanding of human health and disease. This pilot study delves beyond the initial "unmasking" of the genetic code, focusing on a specific type of genetic variation - copy number variants (CNVs) - and their potential role in congenital heart disease (CHD) in the South African population.Unveiling Copy Number Variants:Our DNA, the hereditary material passed down through generations, is composed of a meticulously organ...
For decades, scientists have strived to decipher the intricate language of our genes. The discovery of the genetic code, the blueprint for life, marked a monumental leap in our understanding of human health and disease. This pilot study delves beyond the initial "unmasking" of the genetic code, focusing on a specific type of genetic variation - copy number variants (CNVs) - and their potential role in congenital heart disease (CHD) in the South African population.Unveiling Copy Number Variants:Our DNA, the hereditary material passed down through generations, is composed of a meticulously organized sequence of nucleotides. CNVs arise when segments of DNA are either duplicated (gains) or deleted (losses) within the genome. These alterations can encompass a single gene or stretch across vast chromosomal regions, potentially impacting gene function and leading to various health conditions.
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