MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'copy number variation'. Sat, 03 Sep 2011 02:36:33 +0100 http://www.medworm.com/index.php?rid=2442310&cid=t_104787_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2Fzy4jy2NE4Io%2F Otherwise known as the Victorian Ape Woman, “Bearded Lady” Julia Pastrana was a circus act in 19th century Europe. Hers was an extremely rare genetic syndrome that baffled and fascinated the public since she was first exhibited by her husband. Pastrana has a genetic syndrome known as hypertrichosis terminalis where straight coarse hair covered her entire face and body, and her teeth and gums were irregular. "Bearded Lady" Julia Pastrana has rare genetic condition. Image: Public Domain New research released Thursday uncovered the exact genetic mutation responsible for  conditions similar to Pastrana’s. Published in the May 12st issue of the American Journal of Human Genetics, the study looked into three large Chinese Han families with autosomal-dominant congenital generali... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2442310 Fri, 22 May 2009 03:41:00 +0100 2442310 http://www.medworm.com/index.php?rid=1750130&cid=t_104787_132_f&fid=35028&url=http%3A%2F%2Flurena.vox.com%2Flibrary%2Fpost%2Fmining-affymetrix-snp60-copy-number-data-in-human-cancer.html%3F_c%3Dfeed-rss Adam Butler Morning Session, 2 September (11th MGED Meeting, 1-4 September, 2008) They are looking for homozygous deletions, genomic amplifications, regions of LOH, and want to map break points. They have 1246 samples to do this work on. The pla... Read and post comments | Send to a friend (Source: Systems Biology & Bioinformatics) Systems Biology & Bioinformatics blogs http://www.medworm.com/rss/comments.php?id=1750130 Tue, 02 Sep 2008 09:08:34 +0100 1750130 http://www.medworm.com/index.php?rid=1234652&cid=t_104787_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F02%2F15%2Fmore-on-twins-identical-twins-have-genetic-differences%2F Right on the tails of my last post comes ground-breaking news about identical twins: they don’t actually have identical genetics! (Darn close, but not 100% identical.) A study by University of Alabama, Birmingham researchers challenges the long-held belief that identical twins have identical genetics. They compared the DNA of sets of twins and discovered significant [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1234652 Fri, 15 Feb 2008 19:39:01 +0100 1234652 http://www.medworm.com/index.php?rid=971454&cid=t_104787_131_f&fid=35005&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2Ffungalcompgenomics%2F%7E3%2F173623765%2F A paper on "Effects of Aneuploidy on Cellular Division in Haploid Yeast" describes what must be a very stressful situation for a cell, when it loses or gains a chromosome and the detailed effects this has on cell cycle and physiology. © Jason Stajich for Fungal Genomes and Comparative Genomics, 2007. | Permalink | No comment Add to del.icio.us Search blogs linking this post with Technorati Want more on these topics ? Browse the archive of posts filed under aneuploidy, copy number variation. (Source: Fungal Genomes and Comparative Genomics) Fungal Genomes and Comparative Genomics blogs http://www.medworm.com/rss/comments.php?id=971454 Tue, 23 Oct 2007 03:39:21 +0100 971454 http://www.medworm.com/index.php?rid=486420&cid=t_104787_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F103054599%2F Gene Genie is coming to Genetics and Health and you can be a part of it! Send me your post about genes and/or gene-related diseases and I’ll include it in a round-up this Saturday, March 24. Be on the lookout for some magical genetic moments. This morning, Genie is wondering how spontaneous deletions and duplications of DNA, aka copy number variation, scattered throughout the genome could be involved in autism spectrum disorders. Maybe they’re the result of some other injury that led to both autism and the mutations? Maybe it’s selection bias? The people in the study with autism must differ in other ways from healthy controls. Were all known and unknown factors controlled for? Genie reserves judgment until she knows more about what the biological importance of these hundr... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=486420 Tue, 20 Mar 2007 13:38:17 +0100 486420