Author

Wei Ma

Central South University

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

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Biology Disciplines

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Genetic & Genomic Medicine· 2 Immunology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:cell type annotation· 1 Approach:genetic perturbation / CRISPR· 1 Approach:large language model· 1 Organism:mouse· 1 Assay:scRNA-seq· 1 Approach:statistical model· 1

Frequent Co-Authors

Abduarahman Almutairi· 1 shared Agustin Bernacchia· 1 shared Alejandro Nieto-PatlániD· 1 shared Alice Y. K. ChaniD· 1 shared Anita Chacko· 1 shared Annie Tsz-Wai ChuiD· 1 shared Benjamin McLeaniD· 1 shared Bing LiuiD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abduarahman Almutairi

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3 papers

Recent·Most cited

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty, Justyne E. Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto-Patlán, Shiloh Martin, Benjamin McLean, Marwa Elnagheeb, Morton Jerome Cowan, Jennifer M. Puck, M S Hershfield, James W. Verbsky, Jolan Eszter Walter, , Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

Genetics in Medicine · Oct 15, 2025Peer-reviewedGenetic & Genomic Medicine

DeepSeek as the paradigm shift in rare disease diagnosis-the power of a fully automated genetic variant classification system

Wei Ma, Grace Fong, Jianlin Lai, Hui Wu, Shirley Pik Ying Hue, Jonson Ying, The Hong Kong Genome Project, Annie Tsz-Wai Chu, Brian Hon Yin Chung

This study develops a fully automated genetic variant classification framework using LLMs, achieving high sensitivity and 100% specificity in interpreting ACMG rules and matching human curators on curated variants.

medRxiv · Jun 3, 2025 · PreprintGenetic & Genomic Medicine

Embryonic Mast Cells Arise from Cpa3-expressing Precursors Independent of Granulocyte-Monocyte Progenitors

Wei Ma, Huifang Chen, Fei Gao, Han Zhao, Ningbo Wu, Shuangyan Zhang, Yiwen Zhu, Xu Zijian, Yu Lan, Bing Liu, Youqiong Ye, Zhaoyuan Liu, Florent Ginhoux, Bing Su

This study identifies Cpa3-expressing precursors as the source of embryonic mast cells, independent of granulocyte-monocyte progenitors, using single-cell RNA sequencing and genetic fate mapping.

Science China Life Sciences · May 22, 2025Peer-reviewedImmunology