pypi: Splice | Projects | Ecosyste.ms: Papers

10.7717/peerj.6339

Splitting on categorical predictors in random forests
Cited by: 26
Author(s): Marvin N. Wright, Inke R. König
Software Mentions: 9
Published: almost 6 years ago

Quantitative measures for the management and comparison of annotated genomes
Cited by: 132
Author(s): Karen Eilbeck, Barry Moore, Carson Holt, Mark Yandell
Software Mentions: 3
Published: almost 16 years ago

10.12688/f1000research.5654.1

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
Cited by: 76
Author(s): Natasha Caminsky, Eliseos J. Mucaki
Software Mentions: 3
Published: about 10 years ago

10.1038/s41598-020-62759-5

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
Cited by: 14
Author(s): Miriam E. Reyna-Fabián, Nancy Leticia Hernández‐Martínez, Miguel Ángel Alcántara-Ortigoza, Jorge Tonatiuh Ayala-Sumuano, Sergio Enríquez-Flores, José A. Velázquez-Aragón, Alfredo Varela‐Echavarría, Carlos G. Todd-Quiñones, Ariadna González-del Ángel
Software Mentions: 2
Published: over 4 years ago

10.1186/s12859-020-03610-6

SLFinder, a pipeline for the novel identification of splice-leader sequences: a good enough solution for a complex problem
Cited by: 3
Author(s): Javier Calvelo, Hernán Juan, Héctor Musto, Uriel Koziol, Andrés Iriarte
Software Mentions: 2
Published: over 4 years ago

10.3390/e23020200

A Bootstrap Framework for Aggregating within and between Feature Selection Methods
Cited by: 10
Author(s): Reem Salman, Ayman Alzaatreh, Hana Sulieman, Shaimaa Faisal
Software Mentions: 2
Published: almost 4 years ago

10.1186/1471-2105-15-229

SnowyOwl: accurate prediction of fungal genes by using RNA-Seq and homology information to select among ab initio models
Cited by: 27
Author(s): Ian D. Reid, Nicholas O’Toole, Omar Zabaneh, Reza Nourzadeh, Mahmoud Dahdouli, Mostafa Abdellateef, Paul M. Gordon, Jung Soh, Gregory Butler, Christoph Wilhelm Sensen, Adrian Tsang
Software Mentions: 2
Published: over 10 years ago

10.1371/journal.pone.0089673

SnapShot-Seq: A Method for Extracting Genome-Wide, In Vivo mRNA Dynamics from a Single Total RNA Sample
Cited by: 51
Author(s): Jesse Gray, David A. Harmin, Sarah A. Boswell, Nicole Cloonan, Thomas E. Mullen, Joseph J. Ling, Nimrod Miller, Scott Kuersten, Chao Yin, Steven A. McCarroll, Sean M. Grimmond, Michael Springer
Software Mentions: 2
Published: almost 11 years ago

10.1186/1471-2164-15-703

Using Galaxy-P to leverage RNA-Seq for the discovery of novel protein variations
Cited by: 74
Author(s): Gloria Sheynkman, James E. Johnson, Pratik Jagtap, Michael R. Shortreed, Getiria Onsongo, Brian L. Frey, Timothy J. Griffin, Lloyd M. Smith
Software Mentions: 2
Published: over 10 years ago

10.3390/cells9020328

Poison-Exon Inclusion in DHX9 Reduces Its Expression and Sensitizes Ewing Sarcoma Cells to Chemotherapeutic Treatment
Cited by: 18
Author(s): Ramona Palombo, Veronica Verdile, Maria Paola Paronetto
Software Mentions: 1
Published: almost 5 years ago

10.3389/fnins.2016.00566

An Insulin-Like Growth Factor in Rhodnius prolixus Is Involved in Post-feeding Nutrient Balance and Growth
Cited by: 20
Author(s): Marina S. Defferrari, Ian Orchard, Angela B. Lange
Software Mentions: 1
Published: about 8 years ago

10.3390/genes11080870

Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy
Cited by: 3
Author(s): Giovanna Cardiero, Gennaro Musollino, Maria G. Friscia, R. Testa, Lucrezia Virruso, Caterina Di Girgenti, Mercedes Caldora, Rosario Colella Bisogno, Carlo Gaudiano, Giuseppe Manco, Giuseppina Lacerra
Software Mentions: 1
Published: over 4 years ago

10.1038/s41439-020-0103-5

Novel LAMA2 variants identified in a patient with white matter abnormalities
Cited by: 1
Author(s): Keiko Yamamoto‐Shimojima, Hiroaki Ono, Taichi Imaizumi, Toshiyuki Yamamoto
Software Mentions: 1
Published: over 4 years ago

10.1590/S1677-5538.IBJU.2019.0015

Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
Cited by: 2
Author(s): Laura Cifuentes-C, Carlos H. Martínez, Herney Andrés García‐Perdomo
Software Mentions: 1
Published: almost 5 years ago

10.1038/s41598-021-86238-7

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients
Cited by: 13
Author(s): Axel Muendlein, Kathrin Geiger, Stella Gaenger, Tobias Dechow, Christoph Nonnenbroich, Andreas Leiherer, Heinz Drexel, Andreas Gäumann, Wolfgang Jagla, Thomas Winder, Frank Mayer, Thomas Decker
Software Mentions: 1
Published: over 3 years ago

10.3892/ijo.2012.1561

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma
Cited by: 12
Author(s): Claire Taylor, Rachel A. Craven, Patricia Harnden, Peter J. Selby, Rosamonde E. Banks
Software Mentions: 1
Published: over 12 years ago

10.3390/ijms19041103

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome
Cited by: 19
Author(s): E. Colombo, Andrea Locatelli, Laura Sánchez, Sara Romeo, Nursel Elçioğlu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli, Cristina Gervasini, Vanna Pecile, Lidia Larizza
Software Mentions: 1
Published: over 6 years ago

10.1186/s12952-017-0072-5

Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src
Cited by: 3
Author(s): Nabila Brahami, S. Selvakumar, Moudjahed Saleh Al-Ddafari, Cecile Elkaim, Pierre-Olivier Harmand, Badr-Eddine Sari, Gérard Lefranc, Mourad Aribi
Software Mentions: 1
Published: over 7 years ago

10.1186/s40478-017-0438-4

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
Cited by: 27
Author(s): Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquérriere
Software Mentions: 1
Published: over 7 years ago

10.1186/1750-1172-6-65

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
Cited by: 45
Author(s): Gema García‐García, María José Aparisi, Teresa Jaijo, Regina Rodrigo, Ana M. León, Almudena Ávila-Fernández, Fiona Blanco‐Kelly, Sara Bernal, Rafael Navarro, M. Díaz-Llopis, Montserrat Baiget, Carmen Ayuso, José María Millán, Elena Aller
Software Mentions: 1
Published: about 13 years ago

10.1186/1472-6750-6-13

Modification of the Creator recombination system for proteomics applications – improved expression by addition of splice sites
Cited by: 45
Author(s): Karen Colwill, Clark D. Wells, Kelly Elder, Marilyn Goudreault, Kadija Hersi, Surendra U. Kulkarni, W. Rod Hardy, Tony Pawson, Gregg B. Morin
Software Mentions: 1
Published: almost 19 years ago

10.1186/1471-2407-9-181

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2French Canadian families with high risk of breast cancer
Cited by: 35
Author(s): Sylvie Desjardins, Joly Charles Beauparlant, Yvan Labrie, Geneviève Ouellette, Francine Durocher
Software Mentions: 1
Published: over 15 years ago

10.1186/1471-2164-12-24

The epigenetic regulator Histone Deacetylase 1 promotes transcription of a core neurogenic programme in zebrafish embryos
Cited by: 50
Author(s): Michael R. Harrison, A. S. Georgiou, Herman P. Spaink, Vincent T. Cunliffe
Software Mentions: 1
Published: almost 14 years ago

10.1186/s12881-015-0231-9

NPHS2 mutations account for only 15 % of nephrotic syndrome cases
Cited by: 16
Author(s): Mara Sanches Guaragna, Anna Cristina G.B. Lutaif, Cristiane S C Piveta, Marcela Lopes de Souza, Suéllen Rodrigues De Souza, Taciane Barbosa Henriques, Andréa T. Maciel‐Guerra, Vera Maria Santoro Belangero, Gil Guerra, Maricilda Palandi de Mello
Software Mentions: 1
Published: about 9 years ago

10.1186/2195-7819-9-9

Frankenstein 2.0.: Identifying and characterising synthetic biology engineers in science fiction films
Cited by: 9
Author(s): Angela Meyer, Amelie Cserer, Markus Schmidt
Software Mentions: 1
Published: about 11 years ago

10.1002/mgg3.552

Identification of a pathogenic mutation in<i>ATP2A1</i>via in silico analysis of exome data for cryptic aberrant splice sites
Cited by: 6
Author(s): Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia Estrella, Partha S. Ghosh, Basil T. Darras, Hart G.W. Lidov, Christina A. Pacak, Louis M. Kunkel, François Modave, Isabelle Draper, Peter B. Kang
Software Mentions: 1
Published: almost 6 years ago

10.1371/journal.pone.0077186

Genetic Alterations within the DENND1A Gene in Patients with Polycystic Ovary Syndrome (PCOS)
Cited by: 31
Author(s): Mette Brandt Eriksen, Michael Friberg Bruun Nielsen, Klaus Brusgaard, Qihua Tan, Marianne Andersen, Dorte Glintborg, Michael Gaster
Software Mentions: 1
Published: about 11 years ago

10.1371/journal.pone.0093983

Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2
Cited by: 20
Author(s): Alessandra Perfetti, Simona Greco, Pasquale Fasanaro, Enrico Bugiardini, Rosanna Cardani, Josè Manuel Garcia Manteiga, Michela Riba, Davide Cittaro, Elia Stupka, G. Meola, Fabio Martelli
Software Mentions: 1
Published: over 10 years ago

Ecosyste.ms: Papers

Projects: pypi: Splice

Papers Mentioning Splice 29