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Page 1
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Jiménez Barrón LT, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT. Jain S, et al. Among authors: brenner se. bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558. bioRxiv. 2024. PMID: 38798479 Free PMC article. Preprint.
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: brenner se. bioRxiv [Preprint]. 2024 Jun 8:2024.06.06.597828. doi: 10.1101/2024.06.06.597828. bioRxiv. 2024. PMID: 38895200 Free PMC article. Preprint.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. Among authors: brenner se. bioRxiv [Preprint]. 2024 Sep 21:2024.09.17.611902. doi: 10.1101/2024.09.17.611902. bioRxiv. 2024. PMID: 39345488 Free PMC article. Preprint.
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6.
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song YS, Sun Y, Shen Y, Kuru N, Dereli O, Adebali O, Alladin MA, Pal D, Capriotti E, Turina MP, Savojardo C, Martelli PL, Babbi G, Casadio R, Pucci F, Rooman M, Cia G, Tsishyn M, Strokach A, Hu Z, van Loggerenberg W, Roth FP, Radivojac P, Brenner SE, Cong Q, Grishin NV. Zhang J, et al. Among authors: brenner se. Hum Genet. 2024 Aug 7. doi: 10.1007/s00439-024-02680-3. Online ahead of print. Hum Genet. 2024. PMID: 39110250
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau EAW, Greenblatt MS, Harrison SM, Tavtigian SV, Radivojac P, Brenner SE, O'Donnell-Luria A; ClinGen Sequence Variant Interpretation Working Group. Stenton SL, et al. Among authors: brenner se. Genet Med. 2024 Nov;26(11):101213. doi: 10.1016/j.gim.2024.101213. Epub 2024 Jul 25. Genet Med. 2024. PMID: 39030733
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Chen Y, Lee K, Woo J, Kim DW, Keum C, Babbi G, Casadio R, Martelli PL, Savojardo C, Manfredi M, Shen Y, Sun Y, Katsonis P, Lichtarge O, Pejaver V, Seward DJ, Kamandula A, Bakolitsa C, Brenner SE, Radivojac P, O'Donnell-Luria A, Mooney SD, Jain S. Chen Y, et al. Among authors: brenner se. Res Sq [Preprint]. 2024 Jul 2:rs.3.rs-4587317. doi: 10.21203/rs.3.rs-4587317/v1. Res Sq. 2024. PMID: 39011112 Free PMC article. Preprint.
195 results