Copy number variants - random?
Professor Judith Rapoport discusses how copy number variants may be inherited and are not necessarily random.
Well I donâ€™t think it is necessarily [random]. There are certain parts of the chromosome that seem to have this more than others, and weâ€™ve only been particularly interested in whatâ€™s called the coding regions, the parts that make proteins, and people have tended to look at this selectively. Many of the variants that weâ€™re finding in that Science paper where Walsh was the first author, 80% of the ones we found were inherited from healthy parents, and that is generally not reported in the other studies, because they donâ€™t necessarily have trios. But when you have trios, meaning you have a mother, a father, and a child, youâ€™re finding that many of these, in fact, are turning out to be inherited, which means they may still be important, but they are probably â€“ for many of these â€“ a risk factor, not necessarily the cause of the disorder.
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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 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 discusses the use of screening for copy number variants to detect potential problems during pregnancy.
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.
Professor Judith Rapoport discusses techniques for finding rare structural variants in the genome, which may cause many disorders including childhood schizophrenia.
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.
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.