Human genome: multiple new variants detected

The DNA variations that interest most scientists are very precise. A change to a single nucleotide (a DNA building block) can radically alter the nature of the protein that is ultimately produced. Detecting these variations can be a complicated task: the usual techniques involve sequencing the entire genome of interest and then comparing it to a genome of reference. Such a large quantity of data may contain errors, and the strategies generally used offer only an approximate estimate of the variations.

In 2021, to address these issues, scientists in the Sequence Bioinformatics team at the Institut Pasteur, led by Rayan Chikhi, developed an entirely new algorithm capable of pinpointing all the positions where variations are likely to occur in a given genome. Computer methods can then be used to examine each position and clearly identify the variations.

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