These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. Yourshaw M; Taylor SP; Rao AR; Martín MG; Nelson SF Brief Bioinform; 2015 Mar; 16(2):255-64. PubMed ID: 24626529 [TBL] [Abstract][Full Text] [Related]
12. GENCODE reference annotation for the human and mouse genomes. Frankish A; Diekhans M; Ferreira AM; Johnson R; Jungreis I; Loveland J; Mudge JM; Sisu C; Wright J; Armstrong J; Barnes I; Berry A; Bignell A; Carbonell Sala S; Chrast J; Cunningham F; Di Domenico T; Donaldson S; Fiddes IT; García Girón C; Gonzalez JM; Grego T; Hardy M; Hourlier T; Hunt T; Izuogu OG; Lagarde J; Martin FJ; Martínez L; Mohanan S; Muir P; Navarro FCP; Parker A; Pei B; Pozo F; Ruffier M; Schmitt BM; Stapleton E; Suner MM; Sycheva I; Uszczynska-Ratajczak B; Xu J; Yates A; Zerbino D; Zhang Y; Aken B; Choudhary JS; Gerstein M; Guigó R; Hubbard TJP; Kellis M; Paten B; Reymond A; Tress ML; Flicek P Nucleic Acids Res; 2019 Jan; 47(D1):D766-D773. PubMed ID: 30357393 [TBL] [Abstract][Full Text] [Related]
13. 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 Nucleic Acids Res; 2021 Jan; 49(D1):D884-D891. PubMed ID: 33137190 [TBL] [Abstract][Full Text] [Related]
14. Variant Ranker: a web-tool to rank genomic data according to functional significance. Alexander J; Mantzaris D; Georgitsi M; Drineas P; Paschou P BMC Bioinformatics; 2017 Jul; 18(1):341. PubMed ID: 28716001 [TBL] [Abstract][Full Text] [Related]
15. The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. Lee IH; Negron JA; Hernandez-Ferrer C; Alvarez WJ; Mandl KD; Kong SW Hum Mutat; 2020 Feb; 41(2):387-396. PubMed ID: 31691385 [TBL] [Abstract][Full Text] [Related]
17. The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements. Morales J; McMahon AC; Loveland J; Perry E; Frankish A; Hunt S; Armean IM; Flicek P; Cunningham F Mol Genet Genomic Med; 2021 Dec; 9(12):e1786. PubMed ID: 34435752 [TBL] [Abstract][Full Text] [Related]
18. 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 Nucleic Acids Res; 2015 Jan; 43(Database issue):D662-9. PubMed ID: 25352552 [TBL] [Abstract][Full Text] [Related]
19. Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants. Li J; Yang A; Carneiro BA; Gamsiz Uzun ED; Massingham L; Uzun A BMC Bioinformatics; 2024 Sep; 25(1):288. PubMed ID: 39227781 [TBL] [Abstract][Full Text] [Related]
20. MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Shen L; Attimonelli M; Bai R; Lott MT; Wallace DC; Falk MJ; Gai X Hum Mutat; 2018 Jun; 39(6):806-810. PubMed ID: 29539190 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]