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Pangenomic Mapping Tool Betters Structural Variant Identification

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. ....

United States , Jean Monlong , Benedict Paten , University Of California , Genomics Institute , National Human Genome Research Institute , Uc Santa Cruz Genomics Institute , Google Health , Santa Cruz , Jouni Sir , Cruz Genomics Institute , National Human Genome Research ,