Tag: David M. Altshuler
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Health
International study identifies gene variants associated with early heart attack
The largest study ever completed of genetic factors associated with heart attacks has identified nine genetic regions — three not previously described — that appear to increase the risk for early-onset myocardial infarction. The report from the Myocardial Infarction Genetics Consortium, based on information from a total of 26,000 individuals in 10 countries, was given…
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Health
Database of human genetic diversity allows identification of disease-associated genes
Investigators from six countries have completed the second phase of the International HapMap Project, an effort to identify and catalog genetic similarities and differences among populations around the world. Information provided in the first phase of the HapMap, completed in 2005, has led to the development of techniques facilitating the search for genes associated with…
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Campus & Community
HapMap reveals roots of common diseases
The genes that everyone inherits contain coded information that influences which diseases any individual is most at risk of getting. Countless studies show that small variations in genes play a major role in a host of common maladies that produce untold suffering and premature death. However, progress in tying these variations to specific maladies has…
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Campus & Community
HapMap: First look at ‘order in variety’ of human genome
The completion of the human genome sequence in 2003, though momentous, was only the first step toward grasping the core mechanisms of human biology and disease. This ultimate biomedical goal also requires a comprehensive catalog of the genetic diversity in the human genome sequence across human populations. A flurry of high-profile scientific papers published this…
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Science & Tech
First edition of HapMap released
A flurry of high-profile scientific manuscripts published in October 2005 describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. HapMap gives scientists worldwide a first good look at the “order in variety” that is the human genome. All…
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Science & Tech
The next big thing in mining the genome
About 99.9 percent of the 3.1 billion base pairs in the human genome are the same from person to person. The remaining 0.1 percent of differences comprises more than 10 million common single-letter genetic variations (and many more rare variants) scattered through the genome. By the numbers, a comprehensive search for the multiple genetic contributions…