STAT May 10, 2023
An international team of scientists has assembled the first human “pangenome” — an attempt to make a more representative reference genome, one that captures almost all the genetic variability residing in the DNA of humans around the globe.
The technological achievement, published Wednesday in Nature, is the result of years of work by more than 100 researchers behind The Human Pangenome Project, a $30 million effort launched in 2019 and funded by the U.S. National Human Genome Research Institute.
A reference genome is exactly what it sounds like. It serves as a guide for researchers building genetic tests and looking for new drug targets. The first one, released in 2001, was built from just 11 individuals, with 70% of the...