Long-read sequence and assembly of segmental duplications
Long-read sequence and assembly of segmental duplications is a scholarly work by Mitchell R Vollger, Philip Dishuck, Melanie Sorensen, Evan E. Eichler, Mark J P Chaisson, Tina A Graves-Lindsay, and Max L Dougherty, published in 2018 in ''Nature Methods''. The main subjects of the publication include segmental duplication, whole genome sequencing, biological sequence, gene, genome, annotation, genomic structural variation, gene duplication, polyploidy, reference genome, copy-number variation, biology, human genome, genetics, computational biology, RNA sequencing, and DNA annotation. The authors show that the corresponding sequence is highly accurate (>99.9%) and that the diverged sequence corresponds to copy-number-variable paralogs that are absent from the human reference genome.