Alexandre Colavin
Stanford University
H-index: 11
North America-United States
Top articles of Alexandre Colavin
Title | Journal | Author(s) | Publication Date |
---|---|---|---|
Continuous, probabilistic variant interpretation with Bayesian graphical models | Cancer Research | Wolfgang Michael Korn Yuya Kobayashi Flavia M Facio Arun Nampally Keith Nykamp | 2024/3/22 |
Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis | 2024/1/4 | ||
CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS | Heart Rhythm | Ana Ana Morales Britt Johnson Matteo Vatta Flavia Facio Laure Fresard | 2023/5/1 |
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation | The American Journal of Human Genetics | Warren van Loggerenberg Shahin Sowlati-Hashjin Jochen Weile Rayna Hamilton Aditya Chawla | 2023/10/5 |
P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations | Genetics in Medicine Open | Britt Johnson Ana Morales Flavia Facio Laure Fresard Dianalee McKnight | 2023/1/1 |
Cover Image, Volume 193, Number 3, September 2023 | American Journal of Medical Genetics Part C: Seminars in Medical Genetics | Swaroop Aradhya Flavia M Facio Hillery Metz Toby Manders Alexandre Colavin | 2023/9 |
Applications of artificial intelligence in clinical laboratory genomics | Swaroop Aradhya Flavia M Facio Hillery Metz Toby Manders Alexandre Colavin | 2023/9 | |
Machine Learning Tools: Impact in Reducing VUS in Arrhythmia Genes for Individuals From Underrepresented Populations Compared to Well-Studied Populations | Heart, Lung and Circulation | S Aradhya N Roczo L Burnett A Morales B Johnson | 2023/7/1 |
Systems and methods for the interpretation of genetic and genomic variants via an integrated computational and experimental deep mutational learning framework | 2023/6/15 | ||
The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for … | Circulation | Ana Morales Britt Johnson Flavia Facio Yi-Lee Ting Matteo Vatta | 2023/11/7 |
Developing large-scale molecular stability engines for clinical variant interpretation | Biophysical Journal | John M Nicoludis Gabor F Ptacek Jeanne Morin-Leisk Alexandre Colavin Carlos L Araya | 2022/2/11 |
Extracting phylogenetic dimensions of coevolution reveals hidden functional signals | Scientific Reports | Alexandre Colavin Esha Atolia Anne-Florence Bitbol Kerwyn Casey Huang | 2022/1/17 |
Interpretation of Genetic and Genomic Variants via an Integrated Computational and Experimental Deep Mutational Learning Framework | 2021/5/20 | ||
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation | The American Journal of Human Genetics | Rebecca Truty Karen Ouyang Susan Rojahn Sarah Garcia Alexandre Colavin | 2021/4/1 |
Methods and systems for identification of biomolecule sequence coevolution and applications thereof | 2021/1/5 | ||
MOLECULAR EVIDENCE PLATFORM FOR CONTINUOUS AND VERIFIABLE OPTIMIZATION OF INTERPRETATION OF VARIANTS IN GENETIC TESTS AND ANALYZES | 2021/8/4 | ||
plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas | 2020/10/20 |