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Latest Copy number variation Stories

2009-10-26 15:05:31

Gene copy number variations of the same region, 16p11.2, are already linked to autism An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia. The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located...

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2009-10-08 09:47:46

New map of copy number variation in the human genome is a resource for human genetics In research published Oct. 7 by Nature, an international team describes the finest map of changes to the structure of human genomes and a resource they have developed for researchers worldwide to look at the role of these changes in human disease. They also identify 75 'jumping genes' - regions of our genome that can be found in more than one location in some individuals. However, the team cautions that they...

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2009-10-07 15:50:00

An international research team has issued the most updated map of changes to the structure of human genomes. Writing in the journal Nature, researchers said the new map should provide others with a better approach to fighting human diseases. Researchers also reported the identification of 75 so-called "jumping genes," which are defined as regions of human genomes that can be found in more than one location. They used data compiled through scanning and comparing genomes of 450 people of...

2009-10-04 14:51:57

Duke University Medical Center and National Cancer Institute scientists have discovered that a novel genetic alteration "“ a second copy of an entire gene "“ is a cause of familial chordoma, an uncommon form of cancer arising in bones and frequently affecting the nervous system. Inherited differences in gene copy number, known as copy number variation (CNV), have been implicated in some hereditary diseases but none of the previously discovered familial cancer genes has had CNV as...

2009-08-30 12:38:10

Numbers can vary from person to person A newly designed computational method has proven its usefulness in counting copies of duplicated genome sequences and in doing initial assessments of their contents, according to a study to be published Aug. 30 in Nature Genetics. The number of copies of particular DNA segments can differ from one person to the next. The researchers named their method mrFAST, an acronym for micro-read Fast Alignment Search Tool. The study is titled, "Personalized Copy...

2009-08-24 15:33:12

 A research team led by Associate Professor Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL) has developed a sensitive and accurate way of identifying gene copy number variations (CNVs). The method, which is described in a paper published online ahead of print in Genome Research, uses new DNA sequencing technologies to look for regions of the genome that vary in copy number between individuals in the population. Capable of detecting a wide range of different classes of...

2009-07-15 14:42:00

PHILADELPHIA, July 15 /PRNewswire-USNewswire/ -- Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses -- a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for diagnosing and identifying genetic problems in...

2009-07-15 13:40:00

Benchmarking copy number variations in healthy people will assist with diagnosis and studies of gene disordersGenetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses--a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for...

2009-06-23 10:50:00

-- Missing DNA Segments May Suggest Future Drug Targets -- PHILADELPHIA, June 23 /PRNewswire-USNewswire/ -- Pediatric researchers have identified hundreds of gene variations that occur more frequently in children with attention-deficit hyperactivity disorder (ADHD) than in children without ADHD. Many of those genes were already known to be important for learning, behavior, brain function and neurodevelopment, but had not been previously associated with ADHD. "Because the gene alterations we...

2009-06-23 11:50:17

Pediatric researchers have identified hundreds of gene variations that occur more frequently in children with attention-deficit hyperactivity disorder (ADHD) than in children without ADHD. Many of those genes were already known to be important for learning, behavior, brain function and neurodevelopment, but had not been previously associated with ADHD."Because the gene alterations we found are involved in the development of the nervous system, they may eventually guide researchers to better...


Word of the Day
mallemaroking
  • Nautical, the visiting and carousing of sailors in the Greenland ships.
This word is apparently from a confusion of two similar Dutch words: 'mallemerok,' a foolish woman, and 'mallemok,' a name for some persons among the crew of a whaling vessel.