We All Have Rare Structural Variants
Professor Judith Rapoport explains that we all have rare structural variants, which may have been an evolutionary mechanism driving larger brain sizes,
It is certain that we all have structural variation, and in fact, if you look at the way the chromosome is and its spelling out in letters, most of it almost looks like stuttering â€“ the same letters repeat over and over again. And there are even theories that repeat in the chromosome is part of evolution, so that one of the reasons itâ€™s thought why brains got bigger was by just having twice as much of the same chromosome material just repeated seemed to advance, literally, size and size of certain organs, in a very simple-minded kind of way. It seems to be evolutionarily a very basic phenomenon: repeats in the chromosome.
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Professor Judith Rapoport introduces copy number variants, which are deletions and insertions in chromosomes.
Professor Judith Rapoport discusses the use of screening for copy number variants to detect potential problems during pregnancy.
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 the issue of how copy number variants arise. Some are inherited and others are de novo (first occurrence).
Professor Judith Rapoport discusses how copy number variants may be inherited and are not necessarily random.
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.
An overview of bipolar disorder-related content on Genes to Cognition Online.
Professor Judith Rapoport describes gene expression as messy and inconsistent, which is explicit from a recent schizophrenia study.
Jonathan Sebat, a researcher at Cold Spring Harbor Laboratory, discusses how association studies are used to determine the causes of genetic disorders.