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106 results

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Page 1
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. Ioannidis NM, et al. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666373 Free PMC article.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: ioannidis nm. Hum Genet. 2025 Mar;144(2-3):281-293. doi: 10.1007/s00439-025-02732-2. Epub 2025 Mar 21. Hum Genet. 2025. PMID: 40113603 Free PMC article.
106 results