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"Comparing the sequences of unrelated individuals is useful, but for a family the results are more accurate. We can now see all the genetic variations, including rare ones, and can construct the inheritance of every piece of the chromosomes, which is critical to understanding the traits important to health and disease," he said.
The family was not named in the report.
Meanwhile, a separate report in the New England Journal of Medicine disclosed that Dr. James Lupski of Baylor College of Medicine had sequenced his own complete genome and identified the gene involved in his form of Charcot-Marie-Tooth syndrome, which affects the function of nerves in the body's limbs, hands and feet.
Lupski, vice chairman of molecular and human genetics, said the work "demonstrates that the technology is robust enough that we can find disease genes by determining the whole genome sequence. We can start to use this technology to interpret the clinical information in the context of the sequence -- of the hand of cards you have been dealt."
"Isn't that the goal or dream of personalized genomic medicine?" he said in a statement.
Lupski said he has known for 40 years that he had a disease caused by recessive genes. Now he knows the gene at fault.
And Lupski and colleagues found that having a single copy of the recessive mutation is susceptible to carpal tunnel syndrome, which usually affects people who perform repetitive motions that compress a nerve where it crosses the wrist.
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