![]() ![]() The new pangenome incorporates complete DNA data collected from 47 individuals representing every continent with the exception of Antarctica. Relying on a single reference genome, the group says, creates reference biases and undermines discoveries of variants, associations between genes and disease, and the accuracy of genetic analyses. The project was conducted by the Human Pangenome Reference Consortium, a project funded by the National Human Genome Research Institute to sequence and assemble genomes from individuals from diverse populations. ![]() “The new reference information is much richer and improves our ability to analyze human genomes for the purposes of drug discovery, disease diagnosis, and genome-guided precision medicine,” said Ira Hall, a professor of genetics at Yale School of Medicine and director of the Yale Center for Genomic Health, who is one of five co-corresponding authors of the paper. The achievement is described in a paper published May 10 in the journal Nature, one of six papers on the pangenome project published simultaneously in Nature journals. Twenty years later, a team of researchers that includes Yale scientists has created a new “pangenome” that fills in missing sequencing gaps from the original genome project and greatly expands the diversity of genomes represented. When it was launched in April 2003, the Human Genome Project helped revolutionize biomedical research by providing scientists a reference map that allowed them to analyze DNA sequences for genetic clues to the origins of a host of diseases. ![]()
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