- Researchers have published a new, more comprehensive set of reference human genome sequences in a landmark development.
- The new pangenome reference includes the genome sequences of 47 people from around the world. The original reference human genome sequence came mainly from a single person.
- The pangenome better reflects the global gene pool, so scientists will be able to use it to more accurately identify disease-related genetic variations.
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Scientists have used the same human genome sequence to study genomics for more than 20 years, but on Wednesday a major shift occurred.
The researchers have published a new, more comprehensive reference set Human genome sequence In a historical development it greatly expands on the original reference sequence.
The new pangenome reference includes the genome sequences of 47 people from around the world, according to a series of peer-reviewed scientific papers published in the journal. nature Wednesday. The original reference human genome sequence came primarily from a single person, although it includes components from a total of about 20 individuals.
The pangenome better reflects the global gene pool, so scientists will be able to use it to more accurately identify disease-related genetic variations. According to the researchers, the more diverse reference map will also be used to help develop more personalized care tailored to an individual’s DNA.
The genome is the complete set of DNA instructions required for the growth and functioning of an organism. Scientists rely on the human genome reference to establish a “standard” that they can use to study the differences that make people unique. On average, the genomes of humans are 99% identical, but small differences can give scientists insights into traits that can affect an individual’s health.
“With the pangenome reference, we can accelerate clinical research by improving our understanding of the link between genes and disease traits,” said Wen-Wei Liao, co-first author of the paper, he said in a statement.
The pangenome uses advanced computational techniques to align all genome sequences. The statement said these techniques helped fill in the gaps left by the original reference by adding more than 100 million new DNA letters.
“The repertoire of the human pangenium will enable us to represent tens of thousands of new genomic variants in previously inaccessible regions of the genome,” Liao said.
The research was conducted by scientists at the Human Pangenome Reference Consortium, which is funded in part by the National Institutes of Health.
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