155 related articles for article (PubMed ID: 33011441)
1. Comparison of Pathogenicity Prediction Tools on Somatic Variants.
Suybeng V; Koeppel F; Harlé A; Rouleau E
J Mol Diagn; 2020 Dec; 22(12):1383-1392. PubMed ID: 33011441
[TBL] [Abstract][Full Text] [Related]
2. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Ioannidis NM; Rothstein JH; Pejaver V; Middha S; McDonnell SK; Baheti S; Musolf A; Li Q; Holzinger E; Karyadi D; Cannon-Albright LA; Teerlink CC; Stanford JL; Isaacs WB; Xu J; Cooney KA; Lange EM; Schleutker J; Carpten JD; Powell IJ; Cussenot O; Cancel-Tassin G; Giles GG; MacInnis RJ; Maier C; Hsieh CL; Wiklund F; Catalona WJ; Foulkes WD; Mandal D; Eeles RA; Kote-Jarai Z; Bustamante CD; Schaid DJ; Hastie T; Ostrander EA; Bailey-Wilson JE; Radivojac P; Thibodeau SN; Whittemore AS; Sieh W
Am J Hum Genet; 2016 Oct; 99(4):877-885. PubMed ID: 27666373
[TBL] [Abstract][Full Text] [Related]
3. ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
Alirezaie N; Kernohan KD; Hartley T; Majewski J; Hocking TD
Am J Hum Genet; 2018 Oct; 103(4):474-483. PubMed ID: 30220433
[TBL] [Abstract][Full Text] [Related]
4. Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU; Stuckey A; Lai D; Skinner JR; Love DR
BMC Med Genet; 2015 May; 16():34. PubMed ID: 25967940
[TBL] [Abstract][Full Text] [Related]
5. A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX; He Y; Sanford E; Montesion M; Frampton GM; Vignot S; Soria JC; Ross JS; Miller VA; Stephens PJ; Lipson D; Yelensky R
PLoS Comput Biol; 2018 Feb; 14(2):e1005965. PubMed ID: 29415044
[TBL] [Abstract][Full Text] [Related]
6. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
[TBL] [Abstract][Full Text] [Related]
7. UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
Salgado D; Desvignes JP; Rai G; Blanchard A; Miltgen M; Pinard A; Lévy N; Collod-Béroud G; Béroud C
Hum Mutat; 2016 May; 37(5):439-46. PubMed ID: 26842889
[TBL] [Abstract][Full Text] [Related]
8. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.
Liu X; Wu C; Li C; Boerwinkle E
Hum Mutat; 2016 Mar; 37(3):235-41. PubMed ID: 26555599
[TBL] [Abstract][Full Text] [Related]
9. CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H; Akagi K; Kawame H; Yura K
J Biomed Sci; 2013 Apr; 20(1):25. PubMed ID: 23621914
[TBL] [Abstract][Full Text] [Related]
10. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.
Fortuno C; James PA; Young EL; Feng B; Olivier M; Pesaran T; Tavtigian SV; Spurdle AB
Hum Mutat; 2018 Aug; 39(8):1061-1069. PubMed ID: 29775997
[TBL] [Abstract][Full Text] [Related]
11. MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
Yauy K; Baux D; Pegeot H; Van Goethem C; Mathieu C; Guignard T; Juntas Morales R; Lacourt D; Krahn M; Lehtokari VL; Bonne G; Tuffery-Giraud S; Koenig M; Cossée M
J Mol Diagn; 2018 Jul; 20(4):465-473. PubMed ID: 29689380
[TBL] [Abstract][Full Text] [Related]
12. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Dong C; Wei P; Jian X; Gibbs R; Boerwinkle E; Wang K; Liu X
Hum Mol Genet; 2015 Apr; 24(8):2125-37. PubMed ID: 25552646
[TBL] [Abstract][Full Text] [Related]
13. Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
Accetturo M; D'Uggento AM; Portincasa P; Stella A
Rheumatology (Oxford); 2020 Apr; 59(4):754-761. PubMed ID: 31411330
[TBL] [Abstract][Full Text] [Related]
14. Annotation of Human Exome Gene Variants with Consensus Pathogenicity.
Jaravine V; Balmford J; Metzger P; Boerries M; Binder H; Boeker M
Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32938008
[TBL] [Abstract][Full Text] [Related]
15. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Li S; van der Velde KJ; de Ridder D; van Dijk ADJ; Soudis D; Zwerwer LR; Deelen P; Hendriksen D; Charbon B; van Gijn ME; Abbott K; Sikkema-Raddatz B; van Diemen CC; Kerstjens-Frederikse WS; Sinke RJ; Swertz MA
Genome Med; 2020 Aug; 12(1):75. PubMed ID: 32831124
[TBL] [Abstract][Full Text] [Related]
16. A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease.
Van Horebeek L; Hilven K; Mallants K; Van Nieuwenhuijze A; Kelkka T; Savola P; Mustjoki S; Schlenner SM; Liston A; Dubois B; Goris A
Hum Mol Genet; 2019 Apr; 28(8):1369-1380. PubMed ID: 30541027
[TBL] [Abstract][Full Text] [Related]
17. Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C; Santos-Silva A; Costa E; Bronze-da-Rocha E
Hum Mutat; 2015 Dec; 36(12):1215-25. PubMed ID: 26377032
[TBL] [Abstract][Full Text] [Related]
18. Bioinformatics Analysis of Whole Exome Sequencing Data.
Ulintz PJ; Wu W; Gates CM
Methods Mol Biol; 2019; 1881():277-318. PubMed ID: 30350213
[TBL] [Abstract][Full Text] [Related]
19. Performance evaluation of pathogenicity-computation methods for missense variants.
Li J; Zhao T; Zhang Y; Zhang K; Shi L; Chen Y; Wang X; Sun Z
Nucleic Acids Res; 2018 Sep; 46(15):7793-7804. PubMed ID: 30060008
[TBL] [Abstract][Full Text] [Related]
20. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
Flanagan SE; Patch AM; Ellard S
Genet Test Mol Biomarkers; 2010 Aug; 14(4):533-7. PubMed ID: 20642364
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
