Author

Xiaoyan Jia

Fudan UniversityORCID 0000-0001-5591-246XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:deep learning· 1 Approach:experimental assay· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Bala Bharathi BurugulaiD· 1 shared Chao WangiD· 1 shared Chuyao Xiao· 1 shared Daoyi Wang· 1 shared Jacob Otto KitzmaniD· 1 shared Jiameng Hu· 1 shared Mariam MaksutovaiD· 1 shared Rosemary M. Lemons· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Bala Bharathi BurugulaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 24, 2026

Multiplexed Quantification of Variant Abundance in the Globin Gene Family: Integrating Saturation Mutagenesis with Cross-Paralog Prediction

Xiaoli Cai, Daoyi Wang, Jiameng Hu…·Xiaoyan Jia

The paper presents a hybrid experimental and computational framework to quantify variant abundance in globin genes, using saturation mutagenesis and deep learning for cross-paralog prediction.

DOI 10.64898/2026.08.19.745862

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedDec 23, 2020

Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen…·Jacob Otto Kitzman

The paper functionally tests MSH2 missense variants to determine their impact on Lynch Syndrome risk, finding most are neutral and providing a comprehensive functional map.

133 citationstop 1%

humanexperimental assay

𝕏 PostBluesky