The Ensembl Variant Effect Predictor - PubMed (original) (raw)

• Ensembl 2021.
  Howe KL, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Azov AG, Bennett R, Bhai J, Billis K, Boddu S, Charkhchi M, Cummins C, Da Rin Fioretto L, Davidson C, Dodiya K, El Houdaigui B, Fatima R, Gall A, Garcia Giron C, Grego T, Guijarro-Clarke C, Haggerty L, Hemrom A, Hourlier T, Izuogu OG, Juettemann T, Kaikala V, Kay M, Lavidas I, Le T, Lemos D, Gonzalez Martinez J, Marugán JC, Maurel T, McMahon AC, Mohanan S, Moore B, Muffato M, Oheh DN, Paraschas D, Parker A, Parton A, Prosovetskaia I, Sakthivel MP, Salam AIA, Schmitt BM, Schuilenburg H, Sheppard D, Steed E, Szpak M, Szuba M, Taylor K, Thormann A, Threadgold G, Walts B, Winterbottom A, Chakiachvili M, Chaubal A, De Silva N, Flint B, Frankish A, Hunt SE, IIsley GR, Langridge N, Loveland JE, Martin FJ, Mudge JM, Morales J, Perry E, Ruffier M, Tate J, Thybert D, Trevanion SJ, Cunningham F, Yates AD, Zerbino DR, Flicek P. Howe KL, et al. Nucleic Acids Res. 2021 Jan 8;49(D1):D884-D891. doi: 10.1093/nar/gkaa942. Nucleic Acids Res. 2021. PMID: 33137190 Free PMC article.
• Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.
  Hunt SE, Moore B, Amode RM, Armean IM, Lemos D, Mushtaq A, Parton A, Schuilenburg H, Szpak M, Thormann A, Perry E, Trevanion SJ, Flicek P, Yates AD, Cunningham F. Hunt SE, et al. Hum Mutat. 2022 Aug;43(8):986-997. doi: 10.1002/humu.24298. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34816521 Free PMC article.
• Ensembl 2015.
  Cunningham F, Amode MR, Barrell D, Beal K, Billis K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fitzgerald S, Gil L, Girón CG, Gordon L, Hourlier T, Hunt SE, Janacek SH, Johnson N, Juettemann T, Kähäri AK, Keenan S, Martin FJ, Maurel T, McLaren W, Murphy DN, Nag R, Overduin B, Parker A, Patricio M, Perry E, Pignatelli M, Riat HS, Sheppard D, Taylor K, Thormann A, Vullo A, Wilder SP, Zadissa A, Aken BL, Birney E, Harrow J, Kinsella R, Muffato M, Ruffier M, Searle SM, Spudich G, Trevanion SJ, Yates A, Zerbino DR, Flicek P. Cunningham F, et al. Nucleic Acids Res. 2015 Jan;43(Database issue):D662-9. doi: 10.1093/nar/gku1010. Epub 2014 Oct 28. Nucleic Acids Res. 2015. PMID: 25352552 Free PMC article.
• In Silico Functional Annotation of Genomic Variation.
  Butkiewicz M, Bush WS. Butkiewicz M, et al. Curr Protoc Hum Genet. 2016 Jan 1;88:6.15.1-6.15.17. doi: 10.1002/0471142905.hg0615s88. Curr Protoc Hum Genet. 2016. PMID: 26724722 Free PMC article. Review.
• Genome information resources - developments at Ensembl.
  Hammond MP, Birney E. Hammond MP, et al. Trends Genet. 2004 Jun;20(6):268-72. doi: 10.1016/j.tig.2004.04.002. Trends Genet. 2004. PMID: 15145580 Review.