ScienceDaily (May 18, 2012) A large survey of human genetic variation, just published in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.
“I knew there would be rare variation but had no idea there would be so much of it,” said the senior author of the research, John Novembre, an assistant professor of ecology and evolutionary biology and of bioinformatics at UCLA.
A team of life scientists studied 202 genes in 14,002 people. The human genome contains some 3 billion base pairs; the scientists studied 864,000 of these pairs. While this is only a small part of the genome, the sample size of 14,002 people is one of the largest ever in a sequencing study in humans.
“Our results suggest there are many, many places in the genome where one individual, or a few individuals, have something different,” Novembre said. “Overall, it is surprisingly common that there is a rare variant in the population.
“This study doesn’t tell us how to cure a particular disease but suggests that disease in general