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PreprintCC BY-NCmedRxiv

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

  • A. Ameur
  • F. Taylan
  • M. Ek
  • J. Eisfeldt
  • S. Häggqvist
  • M. Pettersson
  • I. Bunikis
  • J. Klar
  • M. Strandh
  • R. Josefson
  • M. Barbaro
  • A. Beskow
33 more authors
  • A. Blomberg
  • M.-L. Bondeson
  • D. Carlberg
  • P. Corcoran
  • I. Duba
  • R. Ellegard
  • G. Engström
  • T. Fall
  • C. Frykholm
  • M. Gallardo
  • S. Gruvberger Saal
  • A. Gummesson
  • P. Gustafsson
  • A. Hagwall
  • J. Hallin
  • J. Heintz
  • H. T. Helgadottir
  • S. Hellstedt Kerje
  • V. Henmyr
  • O. J. Henry
  • I. Höijer
  • S. Ivarsson
  • A. Jemt
  • T. Jernberg
  • A. Johansson
  • M. J. Soller
  • L. Jonsäll
  • T. Jonson
  • F. Jonsson
  • K. Karrman
  • A. Kashyap
  • A. Koc
  • K
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Abstract

To evaluate the clinical implementation of long-read genome sequencing (lrGS) and establish the population reference resources needed to support its use in diagnostics, we integrate two complementary initiatives: Genome of Sweden (GoS), Swedens contribution to Genome of Europe (GoE), and the Genomic Medicine Sweden - Rare Diseases (GMS-RD) long-read sequencing pilot. The initial GoS release of 576 individuals provides population-scale maps of genetic and epigenetic variation. Among 485 GMS-RD probands, 161 (33.2%) receive a molecular diagnosis, with lrGS providing added clinical value in 40 (24.8%). As a first-line test, lrGS could have avoided at least 42 follow-up analyses and an additional testing cycle in 7.2% of probands, reducing costs and the burden on patients. By integrating population and clinical long-read genomics, Sweden establishes a national ecosystem for genomic research and clinical diagnostics. Our findings support the clinical implementation of lrGS and offer a scalable model for national collaboration.

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Cite

BibTeXRIS
BibTeX
@misc{ameur2026national,
  title = {{A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden}},
  author = {A. Ameur and F. Taylan and M. Ek and J. Eisfeldt and S. Häggqvist and M. Pettersson and I. Bunikis and J. Klar and M. Strandh and R. Josefson and M. Barbaro and A. Beskow and A. Blomberg and M.-L. Bondeson and D. Carlberg and P. Corcoran and I. Duba and R. Ellegard and G. Engström and T. Fall and C. Frykholm and M. Gallardo and S. Gruvberger Saal and A. Gummesson and P. Gustafsson and A. Hagwall and J. Hallin and J. Heintz and H. T. Helgadottir and S. Hellstedt Kerje and V. Henmyr and O. J. Henry and I. Höijer and S. Ivarsson and A. Jemt and T. Jernberg and A. Johansson and M. J. Soller and L. Jonsäll and T. Jonson and F. Jonsson and K. Karrman and A. Kashyap and A. Koc and K},
  howpublished = {medRxiv},
  year = {2026},
  month = oct,
  doi = {10.64898/2026.10.09.26365121},
  url = {https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1},
  note = {CC BY-NC},
}
RIS
TY  - UNPB
TI  - A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden
AU  - A. Ameur
AU  - F. Taylan
AU  - M. Ek
AU  - J. Eisfeldt
AU  - S. Häggqvist
AU  - M. Pettersson
AU  - I. Bunikis
AU  - J. Klar
AU  - M. Strandh
AU  - R. Josefson
AU  - M. Barbaro
AU  - A. Beskow
AU  - A. Blomberg
AU  - M.-L. Bondeson
AU  - D. Carlberg
AU  - P. Corcoran
AU  - I. Duba
AU  - R. Ellegard
AU  - G. Engström
AU  - T. Fall
AU  - C. Frykholm
AU  - M. Gallardo
AU  - S. Gruvberger Saal
AU  - A. Gummesson
AU  - P. Gustafsson
AU  - A. Hagwall
AU  - J. Hallin
AU  - J. Heintz
AU  - H. T. Helgadottir
AU  - S. Hellstedt Kerje
AU  - V. Henmyr
AU  - O. J. Henry
AU  - I. Höijer
AU  - S. Ivarsson
AU  - A. Jemt
AU  - T. Jernberg
AU  - A. Johansson
AU  - M. J. Soller
AU  - L. Jonsäll
AU  - T. Jonson
AU  - F. Jonsson
AU  - K. Karrman
AU  - A. Kashyap
AU  - A. Koc
AU  - K
PY  - 2026
DA  - 2026/10/09
PB  - medRxiv
DO  - 10.64898/2026.10.09.26365121
UR  - https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1
AB  - To evaluate the clinical implementation of long-read genome sequencing (lrGS) and establish the population reference resources needed to support its use in diagnostics, we integrate two complementary initiatives: Genome of Sweden (GoS), Swedens contribution to Genome of Europe (GoE), and the Genomic Medicine Sweden - Rare Diseases (GMS-RD) long-read sequencing pilot. The initial GoS release of 576 individuals provides population-scale maps of genetic and epigenetic variation. Among 485 GMS-RD probands, 161 (33.2%) receive a molecular diagnosis, with lrGS providing added clinical value in 40 (24.8%). As a first-line test, lrGS could have avoided at least 42 follow-up analyses and an additional testing cycle in 7.2% of probands, reducing costs and the burden on patients. By integrating population and clinical long-read genomics, Sweden establishes a national ecosystem for genomic research and clinical diagnostics. Our findings support the clinical implementation of lrGS and offer a scalable model for national collaboration.
ER  -