Introduction Soft ultrasound markers were initially described as a screening method for trisomy 21 to improve the detection rate over that based on age-related risk alone. Soft markers are not structural abnormalities; rather, they are minor ultrasound findings identified in…
Detecting the Genetic Basis of Disease Genetic Variation Each human being’s complete genetic sequence reveals a significant amount of genetic variation. The collection of single nucleotide variations and copy number variations within an individual forms a genetic backdrop that influences…
The Human Genome Project was completed on October 21, 2004, and provided the primary structure (nucleotide sequence) of all chromosomes. However, in the nearly 150 years preceding this breakthrough, there were major discoveries that were equally relevant. Gregor Mendel, known…