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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 4
2018 12
2019 33
2020 61
2021 76
2022 66
2023 38
2024 0

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263 results

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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Lineage replacement and evolution captured by 3 years of the United Kingdom Coronavirus (COVID-19) Infection Survey.
Lythgoe KA, Golubchik T, Hall M, House T, Cahuantzi R, MacIntyre-Cockett G, Fryer H, Thomson L, Nurtay A, Ghafani M, Buck D, Green A, Trebes A, Piazza P, Lonie LJ, Studley R, Rourke E, Smith D, Bashton M, Nelson A, Crown M, McCann C, Young GR, Andre Nunes Dos Santos R, Richards Z, Tariq A; Wellcome Sanger Institute COVID-19 Surveillance Team; COVID-19 Infection Survey Group, The COVID-19 Genomics UK (COG-UK) Consortium; Fraser C, Diamond I, Barrett J, Walker AS, Bonsall D. Lythgoe KA, et al. Proc Biol Sci. 2023 Oct 25;290(2009):20231284. doi: 10.1098/rspb.2023.1284. Epub 2023 Oct 18. Proc Biol Sci. 2023. PMID: 37848057 Free PMC article.
Cancer origin tracing and timing in two high-risk prostate cancers using multisample whole genome analysis: prospects for personalized medicine.
Nurminen A, Jaatinen S, Taavitsainen S, Högnäs G, Lesluyes T, Ansari-Pour N, Tolonen T, Haase K, Koskenalho A, Kankainen M, Jasu J, Rauhala H, Kesäniemi J, Nikupaavola T, Kujala P, Rinta-Kiikka I, Riikonen J, Kaipia A, Murtola T, Tammela TL, Visakorpi T, Nykter M, Wedge DC, Van Loo P, Bova GS. Nurminen A, et al. Genome Med. 2023 Oct 12;15(1):82. doi: 10.1186/s13073-023-01242-y. Genome Med. 2023. PMID: 37828555 Free PMC article.
APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer.
McCann JL, Cristini A, Law EK, Lee SY, Tellier M, Carpenter MA, Beghè C, Kim JJ, Sanchez A, Jarvis MC, Stefanovska B, Temiz NA, Bergstrom EN, Salamango DJ, Brown MR, Murphy S, Alexandrov LB, Miller KM, Gromak N, Harris RS. McCann JL, et al. Nat Genet. 2023 Oct;55(10):1721-1734. doi: 10.1038/s41588-023-01504-w. Epub 2023 Sep 21. Nat Genet. 2023. PMID: 37735199 Free PMC article.
263 results