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Long-read whole-genome analysis of human single cells.
Hård J, Mold JE, Eisfeldt J, Tellgren-Roth C, Häggqvist S, Bunikis I, Contreras-Lopez O, Chin CS, Nordlund J, Rubin CJ, Feuk L, Michaëlsson J, Ameur A. Hård J, et al. Among authors: eisfeldt j. Nat Commun. 2023 Aug 24;14(1):5164. doi: 10.1038/s41467-023-40898-3. Nat Commun. 2023. PMID: 37620373 Free PMC article.
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, Viklund J, Kähäri AK, Lundin P, Che H, Thutkawkorapin J, Eisfeldt J, Lampa S, Dahlberg M, Hagberg J, Jareborg N, Liljedahl U, Jonasson I, Johansson Å, Feuk L, Lundeberg J, Syvänen AC, Lundin S, Nilsson D, Nystedt B, Magnusson PK, Gyllensten U. Ameur A, et al. Among authors: eisfeldt j. Eur J Hum Genet. 2017 Nov;25(11):1253-1260. doi: 10.1038/ejhg.2017.130. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832569 Free PMC article.
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A. Eisfeldt J, et al. Mol Biol Evol. 2020 Jan 1;37(1):18-30. doi: 10.1093/molbev/msz176. Mol Biol Evol. 2020. PMID: 31560401 Free PMC article.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: eisfeldt j. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K, Nilsson D, Thonberg H, Tham E, Ameur A, Eisfeldt J, Lindstrand A. Bilgrav Saether K, et al. Among authors: eisfeldt j. PLoS One. 2023 Jul 28;18(7):e0289346. doi: 10.1371/journal.pone.0289346. eCollection 2023. PLoS One. 2023. PMID: 37506127 Free PMC article.
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, Öfverholm I, Sayyab S, Syvänen AC, Maqbool K, Lilljebjörn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogelstrand L, Nordlund J, Wirta V, Rosenquist R, Barbany G. Rezayee F, et al. Among authors: eisfeldt j. Front Oncol. 2023 Aug 14;13:1217712. doi: 10.3389/fonc.2023.1217712. eCollection 2023. Front Oncol. 2023. PMID: 37664045 Free PMC article.
44 results