198 related articles for article (PubMed ID: 37198692)
1. Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ; Gayevskiy V; Davis RL; Wong M; Mayoh C; Mallawaarachchi A; Hort Y; McCabe MJ; Beecroft S; Jackson MR; Arts P; Dubowsky A; Laing N; Dinger ME; Scott HS; Oates E; Pinese M; Cowley MJ
Genome Biol; 2023 May; 24(1):118. PubMed ID: 37198692
[TBL] [Abstract][Full Text] [Related]
2. Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
Cormier MJ; Pedersen BS; Bayrak-Toydemir P; Quinlan AR
BMC Bioinformatics; 2022 Nov; 23(1):482. PubMed ID: 36376793
[TBL] [Abstract][Full Text] [Related]
3. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P; Chaldebas M; Ogishi M; Al Qureshah F; Ponsin K; Feng Y; Rinchai D; Milisavljevic B; Han JE; Moncada-Vélez M; Keles S; Schröder B; Stenson PD; Cooper DN; Cobat A; Boisson B; Zhang Q; Boisson-Dupuis S; Abel L; Casanova JL
Proc Natl Acad Sci U S A; 2023 Nov; 120(46):e2314225120. PubMed ID: 37931111
[TBL] [Abstract][Full Text] [Related]
4. Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV; Khan M; Roosing S; Cremers FPM; 't Hoen PAC
Hum Mutat; 2021 Jul; 42(7):799-810. PubMed ID: 33942434
[TBL] [Abstract][Full Text] [Related]
5. Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing.
Chiang HL; Chen YT; Su JY; Lin HN; Yu CA; Hung YJ; Wang YL; Huang YT; Lin CL
Nat Struct Mol Biol; 2022 Nov; 29(11):1043-1055. PubMed ID: 36303034
[TBL] [Abstract][Full Text] [Related]
6. PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
Kurosawa R; Iida K; Ajiro M; Awaya T; Yamada M; Kosaki K; Hagiwara M
BMC Genomics; 2023 Oct; 24(1):601. PubMed ID: 37817060
[TBL] [Abstract][Full Text] [Related]
7. Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Smith C; Kitzman JO
Genome Biol; 2023 Dec; 24(1):294. PubMed ID: 38129864
[TBL] [Abstract][Full Text] [Related]
8. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
9. All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E; Horinouchi T; Yamamura T; Aoto Y; Suzuki R; Ichikawa Y; Tanaka Y; Masuda C; Kitakado H; Kondo A; Sakakibara N; Ishiko S; Nagano C; Ishimori S; Usui J; Yamagata K; Matsuo M; Nozu K
Clin Exp Nephrol; 2023 Sep; 27(9):737-746. PubMed ID: 37254000
[TBL] [Abstract][Full Text] [Related]
10. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R; Parfait B; Vidaud D; Girodon E; Pacot L; Le Gac G; Ka C; Ferec C; Fichou Y; Quesnelle C; Aucouturier C; Muller E; Vaur D; Castera L; Boulouard F; Ricou A; Tubeuf H; Soukarieh O; Gaildrat P; Riant F; Guillaud-Bataille M; Caputo SM; Caux-Moncoutier V; Boutry-Kryza N; Bonnet-Dorion F; Schultz I; Rossing M; Quenez O; Goldenberg L; Harter V; Parsons MT; Spurdle AB; Frébourg T; Martins A; Houdayer C; Krieger S
Hum Mutat; 2022 Dec; 43(12):2308-2323. PubMed ID: 36273432
[TBL] [Abstract][Full Text] [Related]
11. Computational prediction of human deep intronic variation.
Barbosa P; Savisaar R; Carmo-Fonseca M; Fonseca A
Gigascience; 2022 Dec; 12():. PubMed ID: 37878682
[TBL] [Abstract][Full Text] [Related]
12. Clinical Characteristics of
Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
[TBL] [Abstract][Full Text] [Related]
13. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.
Rentzsch P; Schubach M; Shendure J; Kircher M
Genome Med; 2021 Feb; 13(1):31. PubMed ID: 33618777
[TBL] [Abstract][Full Text] [Related]
14. Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Danis D; Jacobsen JOB; Carmody LC; Gargano MA; McMurry JA; Hegde A; Haendel MA; Valentini G; Smedley D; Robinson PN
Am J Hum Genet; 2021 Sep; 108(9):1564-1577. PubMed ID: 34289339
[TBL] [Abstract][Full Text] [Related]
15. Predicting Splicing from Primary Sequence with Deep Learning.
Jaganathan K; Kyriazopoulou Panagiotopoulou S; McRae JF; Darbandi SF; Knowles D; Li YI; Kosmicki JA; Arbelaez J; Cui W; Schwartz GB; Chow ED; Kanterakis E; Gao H; Kia A; Batzoglou S; Sanders SJ; Farh KK
Cell; 2019 Jan; 176(3):535-548.e24. PubMed ID: 30661751
[TBL] [Abstract][Full Text] [Related]
16. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Vreeswijk MP; Kraan JN; van der Klift HM; Vink GR; Cornelisse CJ; Wijnen JT; Bakker E; van Asperen CJ; Devilee P
Hum Mutat; 2009 Jan; 30(1):107-14. PubMed ID: 18693280
[TBL] [Abstract][Full Text] [Related]
17. MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
Palmisano A; Vural S; Zhao Y; Sonkin D
Hum Mutat; 2021 Apr; 42(4):342-345. PubMed ID: 33600011
[TBL] [Abstract][Full Text] [Related]
18. SpliceAPP: an interactive web server to predict splicing errors arising from human mutations.
Huang AC; Su JY; Hung YJ; Chiang HL; Chen YT; Huang YT; Yu CA; Lin HN; Lin CL
BMC Genomics; 2024 Jun; 25(1):600. PubMed ID: 38877417
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive characterisation of intronic mis-splicing mutations in human cancers.
Jung H; Lee KS; Choi JK
Oncogene; 2021 Feb; 40(7):1347-1361. PubMed ID: 33420369
[TBL] [Abstract][Full Text] [Related]
20. CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.
Strauch Y; Lord J; Niranjan M; Baralle D
PLoS One; 2022; 17(6):e0269159. PubMed ID: 35657932
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
