De novo variants and genetic screening
Professor Judith Rapoport discusses the use of screening for copy number variants to detect potential problems during pregnancy.
Absolutely, and in fact, although this is politically a controversial issue, the ones (copy number variants) that are de novo are of particular interest for prenatal screening, because today the chips for prenatal screening that are most often used for older women, who are either worried about an inborn disease that might run in their family or about Down syndrome, they now can put one thousand rare diseases on a single prenatal screening chip. For the same 50 dollars that you might have paid for, say, screening for Down syndrome, you might screen for a number of rare disorders, and people are increasingly doing this. The de novo, highly penetrant findings would be a form of schizophrenia you could prevent if you are philosophically â€“ and most donâ€™t object â€“ to terminating pregnancy. The majority of women who choose to have this screening would terminate pregnancy if they found something.
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Professor Judith Rapoport discusses the issue of how copy number variants arise. Some are inherited and others are de novo (first occurrence).
Professor Judith Rapoport discusses techniques for finding rare structural variants in the genome, which may cause many disorders including childhood schizophrenia.
Professor Judith Rapoport discusses how copy number variants may be inherited and are not necessarily random.
Professor Judith Rapoport introduces copy number variants, which are deletions and insertions in chromosomes.
Professor Judith Rapoport explains that we all have rare structural variants, which may have been an evolutionary mechanism driving larger brain sizes,
Professor Judith Rapoport describes attempts to define cellular abnormalities in ADHD as something of a black hole, which may be due to the polygenic nature of the disorder.
Humans differ not only at the level of DNA sequence. It has been recently discovered that humans can also differ in the number of copies of each gene. These are called copy number variants.
Professor Judith Rapoport describes gene expression as messy and inconsistent, which is explicit from a recent schizophrenia study.
Special techniques are used for screening each individual’s genome for millions of different SNPs. This kind of comparison is referred to as a genome-wide association study.
Jonathan Sebat, a researcher at Cold Spring Harbor Laboratory, discusses how association studies are used to determine the causes of genetic disorders.