Copy number variants - environment
Professor Judith Rapoport discusses the issue of how copy number variants arise. Some are inherited and others are de novo (first occurrence).
Well, yes in some cases, whatâ€™s so interesting in the New England Journal article on the 16P deletion that they say is accounting for â€“ this was a group, I think, from the Broad Institute, where Welch was the first author â€“ they described about eight cases, and half of them were inherited and half of them were de novo. So, that site is important, but itâ€™s hard to understand that. In some cases itâ€™s present in the family and in some cases itâ€™s not. So you really donâ€™t know how penetrant that is, how strong the effect is.
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Professor Judith Rapoport discusses the use of screening for copy number variants to detect potential problems during pregnancy.
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,
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 discusses techniques for finding rare structural variants in the genome, which may cause many disorders including childhood schizophrenia.
Jonathan Sebat, a researcher at Cold Spring Harbor Laboratory, discusses how association studies are used to determine the causes of genetic disorders.
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.
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.
Professor Judith Rapoport describes gene expression as messy and inconsistent, which is explicit from a recent schizophrenia study.