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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154
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17621
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Recent Articles
1.
Bergquist T, Stenton S, Nadeau E, Byrne A, Greenblatt M, Harrison S, et al.
Genet Med
. 2025 Mar;
:101402.
PMID: 40084623
Purpose: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to...
2.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
Hum Genet
. 2025 Mar;
PMID: 40055237
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...
3.
Sertori R, Truong B, Singh M, Shinton S, Price R, Sharo A, et al.
Front Immunol
. 2025 Mar;
16:1539848.
PMID: 40028343
Introduction: Newborn screening for immunodeficiency has led to the identification of numerous cases for which the causal etiology is unknown. Methods: Here we report the diagnosis of T lymphopenia of...
4.
Turina P, Petrosino M, Enriquez Sandoval C, Novak L, Pasquo A, Alexov E, et al.
Hum Genet
. 2025 Feb;
PMID: 39976676
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment...
5.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Hum Genet
. 2025 Feb;
PMID: 39934475
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...
6.
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Turina P, Dal Cortivo G, Enriquez Sandoval C, Alexov E, Ascher D, Babbi G, et al.
Hum Genet
. 2024 Dec;
PMID: 39714488
Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calmodulin (CaM). The Critical Assessment of Genome Interpretation (CAGI) data provider at University...
7.
Bergquist T, Stenton S, Nadeau E, Byrne A, Greenblatt M, Harrison S, et al.
bioRxiv
. 2024 Sep;
PMID: 39345488
Purpose: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to...
8.
Lin Y, Menon A, Hu Z, Brenner S
Hum Genomics
. 2024 Aug;
18(1):90.
PMID: 39198917
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...
9.
Zhang J, Kinch L, Katsonis P, Lichtarge O, Jagota M, Song Y, et al.
Hum Genet
. 2024 Aug;
PMID: 39110250
This paper presents an evaluation of predictions submitted for the "HMBS" challenge, a component of the sixth round of the Critical Assessment of Genome Interpretation held in 2021. The challenge...
10.
Stenton S, Pejaver V, Bergquist T, Biesecker L, Byrne A, Nadeau E, et al.
Genet Med
. 2024 Jul;
26(11):101213.
PMID: 39030733
Purpose: To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the ClinGen-calibrated PP3/BP4 computational recommendations. Methods: Missense variants from the...