Author

Sindy Li

University of California, Berkeley

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:deep learning· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Akash Kamandula· 2 shared Castrense SavojardoiD· 2 shared Constantina BakolitsaiD· 2 shared Daniele RaimondiiD· 2 shared Fabrizio PucciiD· 2 shared Gabriel CiaiD· 2 shared Giulia BabbiiD· 2 shared Marianne J. RoomaniD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Akash Kamandula

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2 papers

Recent·Most cited

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain, Marena I. Trinidad, Thanh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo, Silvia Berardelli, Buse Özden, , Wyatt Travis Clark

The paper evaluates variant effect predictions for ARSA gene variants, finding that a bootcamp-trained model outperformed others and that deep learning slightly improved performance over simpler methods.

Human Genetics · Mar 1, 2025Peer-reviewedGenetics

Critical assessment of missense variant effect predictors on disease-relevant variant data

Ruchir Rastogi, Ryan Chung, Sindy Li, Chang Li, Kyoungyeul Lee, Junwoo Woo, Dongwook Kim, Changwon Keum, Giulia Babbi, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Kirsley Chennen, Thomas Weber, Olivier Poch, , Nilah M. Ioannidis

The paper evaluates missense variant effect predictors using CAGI6 data, finding strong performance across settings and highlighting biases in some predictors.

Human Genetics · Mar 1, 2025Peer-reviewedGenetics