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Archive for the ‘Chromosome structural variants’ Category

Large brain-function genes confound case-control studies

Posted in Chromosome structural variants, tagged , on June 14, 2011 | Leave a Comment »

Thinking of bragging about the large size of your brain-function genes? Brain-function genes can be very large.  Genetic variation – specifically, copy number variation (CNV) – is often found in brain-function genes in populations with mental disability … but … not much more often than in healthy populations. To demonstrate the potential impact of confounders, [...]

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That 70s personal genome

Posted in Chromosome structural variants, tagged , , , , on February 3, 2011 | 1 Comment »

“Listen Eric, you should think about how useful your newfangled Personal Genome is going to be.  There are a lot of reasons why all this information doesn’t tell you much” “For example, have you thought about epigenetic effects that might be environmentally induced and can be transmitted across multiple subsequent generations?  Genotypes of individuals in [...]

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Bigger genetic studies, more missing heritability

Posted in Chromosome structural variants, Intronic or repetitive sequences, Uncategorized, tagged , , , , , , , , , , , , , , , on April 5, 2010 | 1 Comment »

Twin studies have long suggested that genetic variation is a part of healthy and disordered mental life.  The problem however – some 10 years now since the full genome sequence era began – has been finding the actual genes that account for this heritability. It sounds simple on paper – just collect lots of folks [...]

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Reciprocal genetics of autism vs. schizophrenia

Posted in Chromosome structural variants, Intronic or repetitive sequences, tagged , , , , , , , , on December 7, 2009 | 1 Comment »

The recent paper, “Comparative genomics of autism and schizophrenia” by Bernard Crespi and colleagues provides a very exciting take on how genetic data can be mined to understand cognitive development and mental illness.  Looking at genetic association data for autism and schizophrenia, the authors point out that 4 loci are associated with both schizophrenia and [...]

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Development of autism vs. schizophrenia depends on a mere 600 kilobases of DNA on chromosome 16

Posted in Chromosome structural variants, tagged , , , , , , , , , on October 27, 2009 | 1 Comment »

Image via Wikipedia File this story under “the more you know, the more you don’t know” or simply under “WTF!“  The new paper, “Microduplications of 16p11.2 are associated with schizophrenia” [doi:10.1038/ng.474] reveals that a short stretch of DNA on chromosome 16p11.2 is – very rarely – duplicated and – more rarely – deleted.  In an [...]

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Cytogenetic arrays to the clinic – stat !

Posted in Chromosome structural variants, tagged , , , on August 27, 2008 | Leave a Comment »

Image via Wikipedia Doctor David Ledbetter gives an eloquent editorial overview in his piece, “Cytogenetic Technology: Genotype and Phenotype” [doi: 10.1056/NEJMe0806570] on the renaissance underway in the field of medical cytogenetics. The use of high density arrays for genome-wide copy number variation has identified a slew of new sites showing recurrent microdeletion that are reliably [...]

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Copy number variation carries the day – and the risk of mental illness

Posted in Chromosome structural variants, tagged , , on May 5, 2008 | Leave a Comment »

Image by Colin Purrington via Flickr A pair of Nature papers (PubMedIDs: 18668039, 18668038) find that mapping the risk of schizophrenia to the genome is more readily achieved when examining structural variation (insertions, deletions, duplications etc.). This is welcome news given the sparse success of SNP screening, although it would be reasonable to assume that [...]

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Genome-wide assesment of structural variation yields clues to development of schizophrenia

Posted in Chromosome structural variants, tagged , on March 28, 2008 | Leave a Comment »

Image via Wikipedia Amidst all the genome-wide ‘snp-ing’ going on of late (my 23-and-me data should arrive in a couple of weeks), Walsh and colleagues provide an incredible trove of structural variation (deletions/insertions in the size range of more than 100kbp but less than 100Mbp) that is 3- to 4-fold enriched in patients with adult [...]

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