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Key Features of Genetic World
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Cytogenetics & Molecular Cytogenetics
Cytogenetics is the study of chromosomal structure, location and function in cells. It includes the study of chromosome number and appearance (karyotyping), the physical location of genes on chromosomes, and chromosomal behaviour in processes such as cell division.
PCR & Sanger Sequencing
PCR is shorthand for a simple but very useful procedure in molecular biology called the polymerase chain reaction. It is a technique used to amplify a segment of DNA of interest or produce lots and lots of copies.
NBS Inborn Errors of Metabolism
Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
Next Generation Sequencing
Next generation sequencing (NGS), massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has revolutionised genomic research.
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