More than 20 years after people got a peek at the first draft of the human genome, our genetic instruction book, researchers have unlocked the next level: the human pangenome.
In four studies published May 10 in Nature, researchers describe the achievement, how the pangenome was built and some of the new biology scientists are learning from it.
The more complete reference book, which includes almost all the DNA of 47 people, will allow researchers to explore types of variation that could never be examined before, such as large chunks of duplicated, lost or rearranged DNA. That work could possibly reveal more details about the genetic underpinnings of heart diseases, schizophrenia and various other diseases and disorders.
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