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Research Interests

Papers共 64 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
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Harnessing Genotype and Phenotype Data for Population-Scale Variant Classification Using Large Language Models and Bayesian Inference
Toby R Manders, Christopher A Tan,Yuya Kobayashi, Alexander Wahl,Carlos Araya, Alexandre Colavin, Flavia M Facio,Hillery Metz, Jason Reuter, Laure Frésard, Samskruthi R Padigepati, David A Stafford, Robert L Nussbaum,Keith Nykamp
Human genetics (2025)
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P213: Interdisciplinary Variant Re-Classification: FGFR3 As an Example of Genotypic Investigation in Suspected Skeletal Dysplasia Population
Ashley Volz, Mitch Bailey,Keith Nykamp, Naomi Ziv, Chris Bauer
Genetics in Medicine Open (2025): 102178
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P632: Learning Phenotypes from 4M+ Patients with Paired Genotypes and Phenotypes*
Toby Manders,Yuya Kobayashi,Keith Nykamp
Genetics in Medicine Open (2025): 103001
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P336: Testing Concordance of Pathogenicity Predictions from Orthogonal Machine Learning Algorithms and Signal to Noise Analysis
Trevor Williams, Leonie Kurzlechner,Yuya Kobayashi,Keith Nykamp,Andrew Landstrom, Flavia M. Facio
Genetics in Medicine Open (2025): 102301
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P674: Advancing Scientific Annotation: Introducing LEAP for Efficient Literature Review
Jackie Tahiliani, Karen Ouyang,Christopher Tan, Michelle Zeman, Rachel Lewis,Keith Nykamp, Amy Knight Johnson
Genetics in Medicine Open (2025): 103043
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O51: VUS Subcategorization in a Points-Based Variant Classification System and Improvements to Cascade Testing Recommendations Using Evidence-Codes
Yuya Kobayashi, Sarah Poll, Elaine Chen, Dan Swartzlander, Flavia M. Facio,Keith Nykamp
Genetics in Medicine Open (2025): 102478
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Author Statistics

#Papers: 64

#Citation: 1461

H-Index: 14

G-Index: 30

Sociability: 6

Diversity: 2

Activity: 13

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