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.
27. Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. Frankish A; Uszczynska B; Ritchie GR; Gonzalez JM; Pervouchine D; Petryszak R; Mudge JM; Fonseca N; Brazma A; Guigo R; Harrow J BMC Genomics; 2015; 16 Suppl 8(Suppl 8):S2. PubMed ID: 26110515 [TBL] [Abstract][Full Text] [Related]
28. Predicting gene structure changes resulting from genetic variants via exon definition features. Majoros WH; Holt C; Campbell MS; Ware D; Yandell M; Reddy TE Bioinformatics; 2018 Nov; 34(21):3616-3623. PubMed ID: 29701825 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. Why Selection Might Be Stronger When Populations Are Small: Intron Size and Density Predict within and between-Species Usage of Exonic Splice Associated cis-Motifs. Wu X; Hurst LD Mol Biol Evol; 2015 Jul; 32(7):1847-61. PubMed ID: 25771198 [TBL] [Abstract][Full Text] [Related]
31. Rules and tools to predict the splicing effects of exonic and intronic mutations. Ohno K; Takeda JI; Masuda A Wiley Interdiscip Rev RNA; 2018 Jan; 9(1):. PubMed ID: 28949076 [TBL] [Abstract][Full Text] [Related]
32. In silico prioritization and further functional characterization of SPINK1 intronic variants. Zou WB; Wu H; Boulling A; Cooper DN; Li ZS; Liao Z; Chen JM; Férec C Hum Genomics; 2017 May; 11(1):7. PubMed ID: 28472998 [TBL] [Abstract][Full Text] [Related]
33. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759 [TBL] [Abstract][Full Text] [Related]
34. SCANVIS: a tool for SCoring, ANnotating and VISualizing splice junctions. Agius P; Geiger H; Robine N Bioinformatics; 2019 Nov; 35(22):4843-4845. PubMed ID: 31197308 [TBL] [Abstract][Full Text] [Related]
35. 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]
36. APPRIS principal isoforms and MANE Select transcripts define reference splice variants. Pozo F; Rodriguez JM; Martínez Gómez L; Vázquez J; Tress ML Bioinformatics; 2022 Sep; 38(Suppl_2):ii89-ii94. PubMed ID: 36124785 [TBL] [Abstract][Full Text] [Related]
37. Snaptron: querying splicing patterns across tens of thousands of RNA-seq samples. Wilks C; Gaddipati P; Nellore A; Langmead B Bioinformatics; 2018 Jan; 34(1):114-116. PubMed ID: 28968689 [TBL] [Abstract][Full Text] [Related]
38. SMLocalizer, a GPU accelerated ImageJ plugin for single molecule localization microscopy. Bernhem K; Brismar H Bioinformatics; 2018 Jan; 34(1):137-138. PubMed ID: 28968783 [TBL] [Abstract][Full Text] [Related]