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.
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“I think it’s considered to be a landmark paper,” said geneticist Frank Speleman 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.”