First human pangenome reveals 120 million more letters in DNA

By 10/05/2023 Portal

A man opened a newspaper on March 23, 1997 and changed the world forever. On one of the pages of the American newspaper The Buffalo News there was an eye-catching advertisement: “We are looking for 20 volunteers to participate in the Human Genome Project. […] The result will have an enormous impact on the future progress of medicine.” That reader answered the call, donated a few milliliters of blood and joined a 3 billion dollar project that led in 2003 to the so-called human reference genome, composed to 70% for that man's DNA, with remnants of two dozen other people. That genetic information, indeed, changed the history of humanity, but it has been insufficient, excluding the diversity of the human species. An international consortium publishes this Wednesday a more sophisticated alternative, made with the genetic sequences of 47 people from different regions of the planet. It is the first draft of the so-called human pangenome.

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Si el genoma de referencia de 2003 es una secuencia lineal, el nuevo pangenoma humano es como un mapa de caminos.El biólogo computacional Benedict Paten, de la Universidad de California en Santa Cruz.