For two decades, scientists have been comparing every person's full set of DNA they study to a template that relies mostly on genetic material from one man affectionately known as 'the guy from Buffalo.'
FILE - This undated image made available by the National Human Genome Research Institute shows the output from a DNA sequencer. The much-heralded Human Genome Project was a huge milestone for science, but most of that genetic blueprint came from one man from Buffalo, N.Y.
"We need a really good understanding of the variations, the differences between human beings," said genomics expert Benedict Paten of the University of California, Santa Cruz. "We're missing out." A human genome is the set of instructions to build and sustain a human being, and experts define a pangenome as a collection of whole genome sequences from many people that is designed to represent the genetic diversity of the human species. The pangenome is not a composite but a collection; scientists depict it as a rainbow of stacked genomes, compared with one line representing the older, single reference genome.
Although any two people's genomes are more than 99% identical, Paten said "it's those differences that are the things that genetics and genomics is concerned with studying and understanding." "Now that we can actually sequence that gene in its entirety and we can understand the variation in that gene, we can start to go back to unexplained cases of patients with coronary heart disease" and look at them in light of the new knowledge, he said. Eichler is paid by the Howard Hughes Medical Institute, which also supports The Associated Press's health and science department.
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