Author

Yaqin Si

North Carolina State UniversityORCID 0000-0002-9968-9754Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Albert A. TucciiD· 2 shared Hui WangiD· 2 shared Jung‐Ying TzengiD· 2 shared Li‐San WangiD· 2 shared Wan‐Ping LeeiD· 2 shared Amanda BruckeriD· 1 shared Badri Narayan VardarajaniD· 1 shared Beth A. DombroskiiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersBioinformatics

Albert A. TucciORCID

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2 papers

Recent·Most cited

CNV-Profile Regression: A New Approach for Copy Number Variant Association Analysis in Whole Genome Sequencing Data

Yaqin Si, Wenbin Lu, Shannon T. Holloway, Hui Wang, Albert A. Tucci, Amanda Brucker, Yuhuan Cheng, Li‐San Wang, Gerard Schellenberger, Wan‐Ping Lee, Jung‐Ying Tzeng

This paper introduces a new framework for CNV association analysis in whole genome sequencing data, identifying additional CNVs linked to Alzheimer's Disease.

bioRxiv · Nov 23, 2024 · PreprintBioinformatics

Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects

Hui Wang, Beth A. Dombroski, Po‐Liang Cheng, Albert A. Tucci, Yaqin Si, John J. Farrell, Jung‐Ying Tzeng, Yuk Yee Leung, John Stephen Malamon, The Alzheimer’s Disease Sequencing Project, Li‐San Wang, Badri Narayan Vardarajan, Lindsay A. Farrer, Gerard D. Schellenberg, Wan‐Ping Lee

The paper identifies structural variations in whole-genome sequencing data from 16,905 ADSP subjects and finds associations with Alzheimer's disease and related endophenotypes.

medRxiv · Sep 13, 2023 · PreprintGenetic & Genomic Medicine