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

Year Number of Results
1998 2
1999 2
2000 1
2001 1
2002 2
2003 4
2004 9
2005 7
2006 8
2007 7
2008 12
2009 12
2010 9
2011 18
2012 19
2013 33
2014 54
2015 47
2016 34
2017 55
2018 44
2019 36
2020 45
2021 12
2022 23
2023 13
2024 5

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473 results

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Page 1
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. PMID: 38496498 Free PMC article. Preprint.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Ungar RA, et al. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165. medRxiv. 2024. PMID: 38260490 Free PMC article. Preprint.
Single-fly assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life.
Kim BY, Gellert HR, Church SH, Suvorov A, Anderson SS, Barmina O, Beskid SG, Comeault AA, Crown KN, Diamond SE, Dorus S, Fujichika T, Hemker JA, Hrcek J, Kankare M, Katoh T, Magnacca KN, Martin RA, Matsunaga T, Medeiros MJ, Miller DE, Pitnick S, Simoni S, Steenwinkel TE, Schiffer M, Syed ZA, Takahashi A, Wei KH, Yokoyama T, Eisen MB, Kopp A, Matute D, Obbard DJ, O'Grady PM, Price DK, Toda MJ, Werner T, Petrov DA. Kim BY, et al. bioRxiv [Preprint]. 2023 Oct 2:2023.10.02.560517. doi: 10.1101/2023.10.02.560517. bioRxiv. 2023. PMID: 37873137 Free PMC article. Preprint.
The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles.
Schreiber J, Boix C, Wook Lee J, Li H, Guan Y, Chang CC, Chang JC, Hawkins-Hooker A, Schölkopf B, Schweikert G, Carulla MR, Canakoglu A, Guzzo F, Nanni L, Masseroli M, Carman MJ, Pinoli P, Hong C, Yip KY, Spence JP, Batra SS, Song YS, Mahony S, Zhang Z, Tan W, Shen Y, Sun Y, Shi M, Adrian J, Sandstrom R, Farrell N, Halow J, Lee K, Jiang L, Yang X, Epstein C, Strattan JS, Bernstein B, Snyder M, Kellis M, Stafford W, Kundaje A; ENCODE Imputation Challenge Participants. Schreiber J, et al. Genome Biol. 2023 Apr 18;24(1):79. doi: 10.1186/s13059-023-02915-y. Genome Biol. 2023. PMID: 37072822 Free PMC article.
473 results