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.
New research based on next-gen sequencing from Color Genomics highlights the importance of structural variants in heredity cancer and cardiovascular disorders, many of which may not be detected by conventional DNA tests. The study identifies over 800 structural variants in 50 genes linked to hereditary cancer and cardiovascular disorders.