Steven E. Brenner
University of California, Berkeley
H-index: 76
North America-United States
Top articles of Steven E. Brenner
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | medRxiv | Sarah L Stenton Melanie O’Leary Gabrielle Lemire Grace E VanNoy Stephanie DiTroia | 2023/8/4 |
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations | medRxiv | Sarah L Stenton Vikas Pejaver Timothy Bergquist Leslie G Biesecker Alicia B Byrne | 2024 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods | Null Null Shantanu Jain Constantina Bakolitsa Steven E Brenner Predrag Radivojac | 2024 | |
LARGE LANGUAGE MODELS (LLMS) AND CHATGPT FOR BIOMEDICINE | Cecilia Arighi Steven Brenner Zhiyong Lu | 2023 | |
Session Introduction: Precision Medicine: Innovative methods for advanced understanding of molecular underpinnings of disease | Yana Bromberg Hannah Carter Steven E Brenner | 2023 | |
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden | Genome medicine | Andrew G Sharo Yangyun Zou Aashish N Adhikari Steven E Brenner | 2023/7/13 |
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup | The American Journal of Human Genetics | Logan C Walker Miguel de la Hoya George AR Wiggins Amanda Lindy Lisa M Vincent | 2023/7/6 |
A rust‐fungus Nudix hydrolase effector decaps mRNA in vitro and interferes with plant immune pathways | New Phytologist | Carl L McCombe Ann‐Maree Catanzariti Julian R Greenwood Anna M Desai Megan A Outram | 2023/7 |
Session Introduction: TOWARDS ETHICAL BIOMEDICAL INFORMATICS: LEARNING FROM OLELO NOEAU, HAWAIIAN PROVERBS | Peter Y Washington Noelani Puniwai Martina Kamaka Gamze Gürsoy Nicholas Tatonetti | 2022 | |
Abstract LB152: The Critical Assessment of Genome Interpretation: A community experiment that informs use of methods for germline cancer variant impact prediction | Cancer Research | Constantina Bakolitsa Shantanu Jain Gaia Andreoletti Roger A Hoskins Predrag Radivojac | 2022/6/15 |
Session Introduction: Precision Medicine: Using Artificial Intelligence to Improve Diagnostics and Healthcare | Michelle Whirl-Carrillo Steven E Brenner Jonathan H Chen Dana C Crawford Łukasz Kidziński | 2022 | |
Newborn screening for neurodevelopmental diseases: Are we there yet? | Wendy K Chung Jonathan S Berg Jeffrey R Botkin Steven E Brenner Jeffrey P Brosco | 2022/6 | |
Biomedical research in the Cloud: considerations for researchers and organizations moving to (or adding) cloud computing resources | Michelle Holko Nick Weber Chris Lunt Steven E Brenner | 2022 | |
Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria | bioRxiv | Vikas Pejaver Alicia B Byrne Bing-Jian Feng Kymberleigh A Pagel Sean D Mooney | 2022/3/19 |
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria | The American Journal of Human Genetics | Vikas Pejaver Alicia B Byrne Bing-Jian Feng Kymberleigh A Pagel Sean D Mooney | 2022/12/1 |
Biological discovery and consumer genomics activate latent privacy risk in functional genomics data | Zhiqiang Hu Andrew Sharo Steven E Brenner | 2022 | |
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants | The American Journal of Human Genetics | Andrew G Sharo Zhiqiang Hu Shamil R Sunyaev Steven E Brenner | 2022/2/3 |
Investigation of the causal etiology in a patient with T-B+ NK+ immunodeficiency | Frontiers in Immunology | Robert Sertori Jian-Xin Lin Esteban Martinez Sadhna Rana Andrew Sharo | 2022/7/29 |
SCOPe: improvements to the structural classification of proteins–extended database to facilitate variant interpretation and machine learning | Nucleic acids research | John-Marc Chandonia Lindsey Guan Shiangyi Lin Changhua Yu Naomi K Fox | 2022/1/7 |
Structural genomics' role in innovative structure characterization | Acta Crystallographica Section A: Foundations of Crystallography | J-M Chandonia Steven E Brenner | 2022/7/7 |
