Human variation revealed

Scientists have generated the most comprehensive map of the structural variation that exists among normal, healthy humans, according to a study published online today in Nature. Understanding normal variation between individuals is critical to identifying abnormal changes that may contribute to a wide variety of heritable diseases. Image: Wikimedia commons"I think it's considered to be a landmark paper," said geneticist linkurl:Frank Speleman;http://users.ugent.be/%7Efspelema/neubla/nb.htm of t

Jef Akst
Jef Akst

Jef Akst is managing editor of The Scientist, where she started as an intern in 2009 after receiving a master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses.

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Oct 6, 2009
Scientists have generated the most comprehensive map of the structural variation that exists among normal, healthy humans, according to a study published online today in Nature. Understanding normal variation between individuals is critical to identifying abnormal changes that may contribute to a wide variety of heritable diseases.
Image: Wikimedia commons
"I think it's considered to be a landmark paper," said geneticist linkurl:Frank Speleman;http://users.ugent.be/%7Efspelema/neubla/nb.htm of the Center for Medical Genetics at Ghent University Hospital in Belgium, who was not involved in the work. "It's quite important in the complete context of genome wide association studies and genetic predisposition." Using microarrays that contained more than 42 million probes, genome scientist linkurl:Stephen Scherer;http://www.tcag.ca/scherer/ of The Hospital for Sick Children in Toronto and the University of Toronto and his colleagues searched the genome of 40 healthy individuals for copy number variants (CNVs) -- areas of the genome that come in varying quantities as...
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