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Frederick Roth
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1
P519: VEPerform: A web resource for evaluating the performance of variant effect predictors
by
Cindy Zhang
,
Frederick Roth
Published in
Genetics in Medicine Open
(2025-01-01)
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2
P174: Understanding patterns in variants of uncertain significance to facilitate reclassification using machine-learning based variant effect predictors
by
Cindy Zhang
,
Daniel Zimmerman
,
Frederick Roth
Published in
Genetics in Medicine Open
(2024-01-01)
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3
P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD)
by
Tiziano Pramparo
,
Henk Blom
,
Ida Vanessa Schwartz
,
Steve Rodems
,
Frederick Roth
Published in
Genetics in Medicine Open
(2023-01-01)
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4
Understanding genetic variants in context
by
Nasa Sinnott-Armstrong
,
Stanley Fields
,
Frederick Roth
,
Lea M Starita
,
Cole Trapnell
,
Judit Villen
,
Douglas M Fowler
,
Christine Queitsch
Published in
eLife
(2024-12-01)
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