Website Search
ID 2196

Rare structural variants - rare causes?

Description:
Professor Judith Rapoport discusses techniques for finding rare structural variants in the genome, which may cause many disorders including childhood schizophrenia.
Transcript:
It’s hard to get agreement (on rare structural variants). The problem isn’t that we aren’t there yet, it’s that no two people are using the exact same screening method or definition. So, the ones we reported in the Science paper were only 100 kilobases (kb) and larger, whereas the screening we are doing now with the million SNP chip can go down to much smaller than that – a few base pairs. As a result, depending on the wider your range is that you’re looking at, the more that you’ll find. The ones that we have called rare are the ones that we couldn’t find in any normative database. But other people are using it if they just find one out of several thousand. So, there is so much information and no two people are using the same technique. But rare would be it was either never or very unlikely, and we will have to be dealing with this again because we are essentially redoing our copy number study with a much, much finer screen, both because we had some evidence that the very small ones not reported in the Science paper may be particularly frequent in our patients with childhood schizophrenia.
Keywords:
rare, structural, variant, variance, screen, microarray, snp, childhood, schizophrenia, judith, rapoport
Downloads:
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

Related content:

2195. De novo variants and genetic screening
Professor Judith Rapoport discusses the use of screening for copy number variants to detect potential problems during pregnancy.
2197. 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,
2192. Copy number variants
Professor Judith Rapoport introduces copy number variants, which are deletions and insertions in chromosomes.
553. Whole Genome Association
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.
793. Whole Genome Association
Jonathan Sebat, a researcher at Cold Spring Harbor Laboratory, discusses how association studies are used to determine the causes of genetic disorders.
2194. 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).
2193. Copy number variants - random?
Professor Judith Rapoport discusses how copy number variants may be inherited and are not necessarily random.
2203. Brain cells and ADHD - a black hole
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.
2200. Bipolar disorder in children - brain abnormalities
Professor Judith Rapoport discusses her research group's finding that children with bipolar disorder have abnormal brain development.
2201. Whole genome expression - schizophrenia
Professor Judith Rapoport describes gene expression as messy and inconsistent, which is explicit from a recent schizophrenia study.
Cold Spring Harbor Laboratory
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving