Cystic Fibrosis (CF) is a multisystem inherited genetic disorder in which due to mutation in cystic fibrosis trans-membrane conductance regulator (CFTR) gene which affects the…
TURNER SYNDROME February is celebrated as Turner syndrome awareness month. Turner syndrome is also known as Monosomy X, Gonadal Dysgenesis and Bonnevie-Ullrich Syndrome. It is…
Whole Exome Sequencing (WES): A comprehensive approach to the detection of disease-causing mutations present in the exome of an individual. Exome covers the protein-coding region…
The Human Genome consists of around 3 billion nucleotides of DNA. Out of which only 1.5% of those nucleotides get translated into proteins. The exome…