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Page 1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
We have extended this framework to computational predictors and introduce a new standard that converts a tool's scores to PP3 and BP4 evidence strengths. Our approach is based on estimating the local positive predictive value and can calibrate any computational tool or oth …
We have extended this framework to computational predictors and introduce a new standard that converts a tool's scores to PP3 and BP4 …
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
We propose repurposing the PVS1_Strength code to capture splicing assay data that provide experimental evidence for variants resulting in RNA transcript(s) with loss of function. Conversely, BP7 may be used to capture RNA results demonstrating no splicing impact for intron …
We propose repurposing the PVS1_Strength code to capture splicing assay data that provide experimental evidence for variants resulting in RN …
Gene editing to prevent ventricular arrhythmias associated with cardiomyocyte cell therapy.
Marchiano S, Nakamura K, Reinecke H, Neidig L, Lai M, Kadota S, Perbellini F, Yang X, Klaiman JM, Blakely LP, Karbassi E, Fields PA, Fenix AM, Beussman KM, Jayabalu A, Kalucki FA, Potter JC, Futakuchi-Tsuchida A, Weber GJ, Dupras S, Tsuchida H, Pabon L, Wang L, Knollmann BC, Kattman S, Thies RS, Sniadecki N, MacLellan WR, Bertero A, Murry CE. Marchiano S, et al. Cell Stem Cell. 2023 Apr 6;30(4):396-414.e9. doi: 10.1016/j.stem.2023.03.010. Cell Stem Cell. 2023. PMID: 37028405 Free PMC article.
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.
Bennett G, Karbassi I, Chen W, Harrison SM, Lebo MS, Meng L, Nagan N, Rigobello R, Rehm HL. Bennett G, et al. Genet Med. 2025 Jun;27(6):101400. doi: 10.1016/j.gim.2025.101400. Epub 2025 Feb 28. Genet Med. 2025. PMID: 40035215
We examined the composition of each laboratory's VUS subclasses and the likelihood variants from each subclass were reclassified toward pathogenic or benign. ...
We examined the composition of each laboratory's VUS subclasses and the likelihood variants from each subclass were reclassified towa …
Mortality, perioperative complications and surgical timelines in hip fracture patients: Comparison of the Spanish with the non-Spanish Cohort of the HIP ATTACK-1 trial.
Guerra-Farfan E, Borges FK, Bhandari M, Garcia-Sanchez Y, Nuñez JH, Mestre-Torres J, Tomas-Hernandez J, Teixidor-Serra J, Balaguer-Castro M, Castillon P, Dealbert A, De Caso Rodriguez J, Aguado HJ, Guerado E, Popova E, Tonelli AC, Balasubramanian K, Vincent J, Harvey V, Kocaqi E, Slobogean G, Devereaux PJ; Hip Attack-1 Investigators. Guerra-Farfan E, et al. Injury. 2024 Nov;55(11):111827. doi: 10.1016/j.injury.2024.111827. Epub 2024 Aug 20. Injury. 2024. PMID: 39217648 Clinical Trial.
Simultaneous dairy wastewater treatment and bioelectricity production in a new microbial fuel cell using photosynthetic Synechococcus.
Khodadi S, Karbassi A, Tavakoli O, Baghdadi M, Zare Z. Khodadi S, et al. Int Microbiol. 2023 Nov;26(4):741-756. doi: 10.1007/s10123-023-00328-2. Epub 2023 Jan 21. Int Microbiol. 2023. PMID: 36680697
Herein, maximum power density, chemical oxygen demand removal, and Coulombic efficiency were 6.95 mW/m(2) (450 omega internal resistance), 62.94, and 43.16%, respectively, through mixing Synechococcus sp. and Chlorella algae in the batch-fed mode. ...The heating value of t …
Herein, maximum power density, chemical oxygen demand removal, and Coulombic efficiency were 6.95 mW/m(2) (450 omega internal resista …
Determining the molecular diffusion coefficient of naphthenic acid in water as a heavy oil pollutant by experimental method.
Sotoudeh Y, Niksokhan MH, Karbassi A, Baghdadi M. Sotoudeh Y, et al. Water Sci Technol. 2025 Feb;91(4):413-423. doi: 10.2166/wst.2025.013. Epub 2025 Feb 4. Water Sci Technol. 2025. PMID: 40018899
In this research, after examining different methods of determining the concentration of naphthenic acid in the water, including UV-vis, chemical oxygen demand (COD), crystal violet, oxidation reduction potential, pH meter, and electrical conductivity meter, the COD method was the …
In this research, after examining different methods of determining the concentration of naphthenic acid in the water, including UV-vis, chem …
14 results