Steven E Brenner
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Explore the profile of Steven E Brenner including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Res Sq
. 2024 Jul;
PMID: 39011112
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
12.
Lin Y, Menon A, Hu Z, Brenner S
bioRxiv
. 2024 Jul;
PMID: 38979289
Background: Variant interpretation is essential for identifying patients' disease-causing genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact Predictors (VIPs), also known as Variant Effect Predictors...
13.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, et al.
bioRxiv
. 2024 Jun;
PMID: 38895200
Regular, systematic, and independent assessment of computational tools used to predict the pathogenicity of missense variants is necessary to evaluate their clinical and research utility and suggest directions for future...
14.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
bioRxiv
. 2024 May;
PMID: 38798479
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this...
15.
Stenton S, OLeary M, Lemire G, VanNoy G, DiTroia S, Ganesh V, et al.
Hum Genomics
. 2024 Apr;
18(1):44.
PMID: 38685113
Background: A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under...
16.
Stenton S, Pejaver V, Bergquist T, Biesecker L, Byrne A, Nadeau E, et al.
medRxiv
. 2024 Mar;
PMID: 38496501
Purpose: To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the calibrated PP3/BP4 computational recommendations. Methods: Missense variants from the...
17.
Bromberg Y, Carter H, Brenner S
Pac Symp Biocomput
. 2023 Dec;
29:446-449.
PMID: 38160298
Precision medicine, also often referred to as personalized medicine, targets the development of treatments and preventative measures specific to the individual's genomic signatures, lifestyle, and environmental conditions. The series of...
18.
Stenton S, OLeary M, Lemire G, VanNoy G, DiTroia S, Ganesh V, et al.
medRxiv
. 2023 Aug;
PMID: 37577678
Background: A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years, and causal variants are identified in under 50%....
19.
Sharo A, Zou Y, Adhikari A, Brenner S
Genome Med
. 2023 Jul;
15(1):51.
PMID: 37443081
Background: Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as...
20.
McCombe C, Catanzariti A, Greenwood J, Desai A, Outram M, Yu D, et al.
New Phytol
. 2023 Jan;
239(1):222-239.
PMID: 36631975
To infect plants, pathogenic fungi secrete small proteins called effectors. Here, we describe the catalytic activity and potential virulence function of the Nudix hydrolase effector AvrM14 from the flax rust...