104 related articles for article (PubMed ID: 34283047)
1. Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A; Domènech-Vivó J; Tenés A; Balmaña J; Diez O; Gutiérrez-Enríquez S
Cancers (Basel); 2021 Jul; 13(13):. PubMed ID: 34283047
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Hirschi OR; Felker SA; Rednam SP; Vallance KL; Parsons DW; Roy A; Cooper GM; Plon SE
medRxiv; 2023 Nov; ():. PubMed ID: 37961416
[TBL] [Abstract][Full Text] [Related]
5. ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ; Yang T; Laudeman J; Calandranis M; Solus J; Roden DM; Glazer AM
medRxiv; 2023 Sep; ():. PubMed ID: 37732247
[TBL] [Abstract][Full Text] [Related]
6. From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.
Bergsma AJ; In 't Groen SL; Verheijen FW; van der Ploeg AT; Pijnappel WWMP
Mol Ther Nucleic Acids; 2016 Sep; 5(9):e361. PubMed ID: 27623443
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Smith C; Kitzman JO
bioRxiv; 2023 May; ():. PubMed ID: 37205456
[TBL] [Abstract][Full Text] [Related]
9. What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.
Riolo G; Cantara S; Ricci C
Methods Protoc; 2021 Sep; 4(3):. PubMed ID: 34564308
[TBL] [Abstract][Full Text] [Related]
10. Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J; Oquendo CJ; Wai HA; Douglas AGL; Bunyan DJ; Wang Y; Hu Z; Zeng Z; Danis D; Katsonis P; Williams A; Lichtarge O; Chang Y; Bagnall RD; Mount SM; Matthiasardottir B; Lin C; Hansen TVO; Leman R; Martins A; Houdayer C; Krieger S; Bakolitsa C; Peng Y; Kamandula A; Radivojac P; Baralle D
Hum Genet; 2024 Jan; ():. PubMed ID: 38170232
[TBL] [Abstract][Full Text] [Related]
11. Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K; Davies B; Cheung M; Comber D; Roberts JD; Tadros R; Green MS; Healey JS; Simpson CS; Sanatani S; Steinberg C; MacIntyre C; Angaran P; Duff H; Hamilton R; Arbour L; Leather R; Seifer C; Fournier A; Atallah J; Kimber S; Makanjee B; Alqarawi W; Cadrin-Tourigny J; Joza J; Gardner M; Talajic M; Bagnall RD; Krahn AD; Laksman ZWM
Eur J Hum Genet; 2023 May; 31(5):512-520. PubMed ID: 36138163
[TBL] [Abstract][Full Text] [Related]
12. LINE-associated cryptic splicing induces dsRNA-mediated interferon response and tumor immunity.
Zheng R; Dunlap M; Lyu J; Gonzalez-Figueroa C; Bobkov G; Harvey SE; Chan TW; Quinones-Valdez G; Choudhury M; Vuong A; Flynn RA; Chang HY; Xiao X; Cheng C
bioRxiv; 2023 Feb; ():. PubMed ID: 36865202
[TBL] [Abstract][Full Text] [Related]
13. Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
Zhang L; Lou H; Huang Y; Dong L; Gong X; Zhang X; Bao W; Xiao R
J Mol Diagn; 2024 Apr; 26(4):267-277. PubMed ID: 38280421
[TBL] [Abstract][Full Text] [Related]
14. A single-cell strategy for the identification of intronic variants related to mis-splicing in pancreatic cancer.
Duman ET; Sitte M; Conrads K; Mackay A; Ludewig F; Ströbel P; Ellenrieder V; Hessmann E; Papantonis A; Salinas G
NAR Genom Bioinform; 2024 Jun; 6(2):lqae057. PubMed ID: 38800828
[TBL] [Abstract][Full Text] [Related]
15. Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C; Bao S; Chen H; Jiang T; Zhang C
bioRxiv; 2024 Apr; ():. PubMed ID: 38586002
[TBL] [Abstract][Full Text] [Related]
16. WITMSG: Large-scale Prediction of Human Intronic m
Liu L; Lei X; Meng J; Wei Z
Curr Genomics; 2020 Jan; 21(1):67-76. PubMed ID: 32655300
[TBL] [Abstract][Full Text] [Related]
17. Method of predicting splice sites based on signal interactions.
Churbanov A; Rogozin IB; Deogun JS; Ali H
Biol Direct; 2006 Apr; 1():10. PubMed ID: 16584568
[TBL] [Abstract][Full Text] [Related]
18. Editor's note on 'Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene'.
Nucleic Acids Res; 2023 Nov; 51(20):11411-11413. PubMed ID: 37791846
[No Abstract] [Full Text] [Related]
19. Performance Evaluation of SpliceAI for the Prediction of Splicing of
Ha C; Kim JW; Jang JH
Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573290
[TBL] [Abstract][Full Text] [Related]
20. Clinical consequences of BRCA2 hypomorphism.
Castells-Roca L; Gutiérrez-Enríquez S; Bonache S; Bogliolo M; Carrasco E; Aza-Carmona M; Montalban G; Muñoz-Subirana N; Pujol R; Cruz C; Llop-Guevara A; Ramírez MJ; Saura C; Lasa A; Serra V; Diez O; Balmaña J; Surrallés J
NPJ Breast Cancer; 2021 Sep; 7(1):117. PubMed ID: 34504103
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]