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Scientists have developed a powerful, inclusive new tool for genomic research that boosts efforts to develop more precise treatments for many diseases.
Data from short-read sequencing up to a few hundred base pairs in length are computationally mapped to source locations and identities in a reference genome. However, the use of a single linear reference sequence generates bias in interpreting genetic variations. Scientists have now developed a new algorithmic tool they call Giraffe that can quickly and accurately map individual short sequencing reads to a pangenome reference representative of thousands of human genomes.