Sotabase

Career

· Medical Scientist Training Program (MD/PhD), Baylor College of Medicine2019–
· Bio-X Undergraduate Fellow, Stanford University2017–2018
· BS in Computer Science, Stanford University2015–2019

Publications (14)

Empowering Multi-Cohort Gene Expression Analysis to Increase Reproducibility
bioRxiv · 2016
128
cited
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Genetics in Medicine · 2018
97
cited
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Science Translational Medicine · 2020
90
cited
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Genetics in Medicine · 2018
50
cited
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
bioRxiv · 2017
27
cited
AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature
Genetics in Medicine · 2019
23
cited
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
Annals of Neurology · 2022
11
cited
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
medRxiv · 2021
6
cited
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis
bioRxiv · 2018
3
cited
AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
bioRxiv · 2019
2
cited
AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature
bioRxiv · 2018
1
cited
AVADA Improves Automated Genetic Variant Database 2 Construction Directly from Full Text Literature
2019
1
cited
Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships
medRxiv · 2020
Literature-based predictions of treatments for genetic disease pathology
bioRxiv · 2022
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Cole Deisseroth | Researcher Profile | Sotabase | Sotabase