Publications

Featured Publications

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., Aganezov, S., Hoyt, S. J., Diekhans, M., Logsdon, G. A., Alonge, M., Antonarakis, S. E., Borchers, M., Bouffard, G. G., Brooks, S. Y., … Phillippy, A. M. (2022). The complete sequence of a…
Identification of high confidence human poly(A) RNA isoform scaffolds using nanopore sequencing

Abstract Nanopore sequencing devices read individual RNA strands directly. This facilitatesidentification of exon linkages and nucleotide modifications; however, using conventional directRNA nanopore sequencing, the 5′ and 3′ ends of poly(A) RNA cannot be identifiedunambiguously. This is due in part to RNA degradation in vivo and in vitro that can obscuretranscription start and end sites. In…
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

Sirén, Jouni, et al. “Pangenomics Enables Genotyping of Known Structural Variants in 5202 Diverse Genomes.” Science, vol. 374, no. 6574, 2021, https://doi.org/10.1126/science.abg8871.