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It’s hard to find a word in the dictionary if some pages are missing. Similarly, it’s hard to study genetic sequences if they’re absent from the human reference genome, the product of the $2.7 billion Human Genome Project, which is typically used as a guide for genomic studies.
A new study has identified more than 61,000 novel genetic sequences across 1,000 Swedish genomes that are absent from the human reference genome. Many of these sequences were also found in African and Icelandic genomes, and even the chimpanzee genome, suggesting they are ancient. The findings, published last week (September 24) in Molecular Biology and Evolution, highlight the diversity of human DNA and underscore the need for an improved reference genome that’s more representative of human genetic variation.
“It’s part of a family of papers that make relatively similar points,” remarks Jesse Gillis, a computational biologist at Cold ...
