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Genetic Testing: The age of personal genomes

Life and Matter Sciences

Nature Papers March 2009


Kari Stefansson
Manel Esteller
Paul Aproa
Sharon Terry
Myles Axton

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The ability to read human genomes is something specifi c to the 21st century. It is only in this century that we have been able to sequence human genomes, and eight years into the century approximately eight human genomes have been completed. However, the rate of sequencing is increasing. The human genomes that have been sequenced so far include those of James Watson, Craig Venter, a Dutch researcher, a woman, a Chinese man, a Korean man, and a family of Africans (father, mother and son). More recently, the genome of a woman with acute lymphocytic leukaemia was sequenced, along with the genome of her tumour at two time points: when it was fi rst diagnosed and again when it recurred after therapy. Among some 98,000 million base pairs that were sequenced in this experiment, eight variations affecting the coding regions of genes were fi nally winnowed out as possible causes of her leukaemia.

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