New bioinformatics tools help identify pathogenic variants in the genome

Phys.org ·

New bioinformatics tools help identify pathogenic variants in the genome

Structural variants and so-called tandem repeats are individual differences in the human genome. They are increasingly linked to diseases, but analyzing and interpreting them poses challenges for researchers.

Structural variants and so-called tandem repeats are individual differences in the human genome. They are increasingly linked to diseases, but analyzing and interpreting them poses challenges for researchers.

Источник: Phys.org