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Accepted

The Impact of Common Structural Variants in Alzheimer's Disease

Presentation or Session Status
Poster presentation
Authors
Songmi Lee, MS1, Adam C English, PhD2, Rui Xia, PhD1, Gina M. Peloso, PhD3, Josh Bis, PhD4, Honghuang Lin, PhD5, Seung Hoan Choi, PhD3, Nancy Heard-Costa, PhD3, Anita L. DeStefano, PhD3, Fritz J Sedlazeck, PhD2 and Myriam Fornage, PhD1

(1)University of Texas Health Science Center at Houston, Houston, TX, USA, (2)Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA, (3)Boston University School of Public Health, Boston, MA, USA, (4)University of Washington, Seattle, WA, USA, (5)University of Massachusetts Medical School, Worcester, MA, USA

Application of the STAAR Framework in Detecting Rare Variant Associations with Alzheimer's Disease and Related Dementias: Insights and Implications

Presentation or Session Status
Poster presentation
Authors
Dongyu Wang1, Sabrina Abbruzzese1, Nancy Heard-Costa2,3, Andy Rampersaud4, Eden Martin5,6,7, Adam Naj8, Bilcag Akgun5,7, Brian Kunkle5,6,7, Sudha Seshadri2,3,9, Gina Peloso1, The Alzheimer's Disease Sequencing Project, Anita L. DeStefano1, Zilin Li10, Xihao Li11,12, Seung Hoan Choi1

Affiliations
1. Department of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.
2. Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, 02118, USA.
3. NHLBI Framingham Heart Study, Framingham, MA, 01702, USA.
4. Research Computing Services, Information Services & Technology, Boston University, Boston, MA, 02215, USA.
5. John P Hussman Institute for Human Genomics, Miami, FL 33136, USA.
6. John T Macdonald Department of Human Genetics, Miami, FL 33136, USA.
7. University of Miami Miller School of Medicine, Miami, FL 33136, USA.
8. Department of Biostatistics, Epidemiology, and Informatics, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
9. Glenn Biggs Institute for Alzheimer's Disease and Neurodegenerative Diseases, University of Texas Health San Antonio, San Antonio, TX, 78229, USA.
10. School of Mathematics and Statistics, Northeast Normal University, Changchun, Jilin 130024, China.
11. Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
12. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Application of the STAAR Framework in Detecting Rare Variant Associations with Alzheimer's Disease and Related Dementias: Insights and Implications

Presentation or Session Status
Poster presentation
Authors
Dongyu Wang1, Sabrina Abbruzzese1, Nancy Heard-Costa2,3, Andy Rampersaud4, Eden Martin5,6,7, Adam Naj8, Bilcag Akgun5,7, Brian Kunkle5,6,7, Sudha Seshadri2,3,9, Gina Peloso1, The Alzheimer's Disease Sequencing Project, Anita L. DeStefano1, Zilin Li10, Xihao Li11,12, Seung Hoan Choi1

Affiliations
1. Department of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.
2. Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, 02118, USA.
3. NHLBI Framingham Heart Study, Framingham, MA, 01702, USA.
4. Research Computing Services, Information Services & Technology, Boston University, Boston, MA, 02215, USA.
5. John P Hussman Institute for Human Genomics, Miami, FL 33136, USA.
6. John T Macdonald Department of Human Genetics, Miami, FL 33136, USA.
7. University of Miami Miller School of Medicine, Miami, FL 33136, USA.
8. Department of Biostatistics, Epidemiology, and Informatics, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
9. Glenn Biggs Institute for Alzheimer's Disease and Neurodegenerative Diseases, University of Texas Health San Antonio, San Antonio, TX, 78229, USA.
10. School of Mathematics and Statistics, Northeast Normal University, Changchun, Jilin 130024, China.
11. Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
12. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Name of Professional Meeting (Other)
2025 Joint Statistical Meeting (JSM)

Integrative multi-omics approaches identify key molecular pathways and improve risk prediction of Late-Onset Alzheimer's Disease

Presentation or Session Status
Oral presentation
October 16, 2025
Authors
Rasika Venkatesh (University of Pennsylvania), Katie M. Cardone (University of Pennsylvania),
Yuki Bradford (University of Pennsylvania), Anni K. Moore (University of Pennsylvania), Rachit Kumar
(University of Pennsylvania), Molly A. Hall (University of Pennsylvania), Jason H. Moore (Cedars-Sinai
Medical Center, Center for Artificial Intelligence Research and Education), Li Shen (University of
Pennsylvania, Institute for Biomedical Informatics), Dokyoon Kim (University of Pennsylvania, Institute
for Biomedical Informatics), Marylyn D. Ritchie (University of Pennsylvania, Institute for Biomedical
Informatics)

Deep learning prediction of RNA binding proteins reveal variant-effect scores for Alzheimer's disease association studies

Presentation or Session Status
Poster presentation
November 6, 2024
Authors
G. Bartels-Quansah1,2, A. Das2,3, C. Lakhani2, D. Knowles2,3

1Barnard Coll., New York City, NY, 2New York Genome Ctr., New York City, NY, 3Columbia Univ., New York City, NY

Understanding the role of APOE genotype in the genetic regulation of gene expression and splicing in human microglia

Presentation or Session Status
Poster presentation
November 6, 2024
Authors
T. Naito1,2, J. Humphrey1, D. Tatarakis3, C. Ha3, K. Raju3, K. Monroe3, T. Sandmann3, M. Belloy4, D. A. Knowles2,5, S. V. Andrews3, T. Raj1

1Icahn Sch. of Med. at Mount Sinai, New York, NY, 2New York Genome Ctr., New York, NY, 3Denali Therapeutics, South San Francisco, CA, 4Washington Univ., Saint Louis, MO, 5Columbia Univ., New York, NY

Deep learning models of gene regulation and the application in Cross-ancestral PRS in Alzheimer's Disease

Presentation or Session Status
Poster presentation
November 7, 2024
Authors
J-s. Lin1, C. M. Lakhani2, A. Das3, D. Knowles4, T. Raj5

1New York Genome Ctr., New York, NY, 2New York Genome Ctr., Manhattan, NY, 3Columbia Univ. / New York Genome Ctr., New York, NY, 4New York Genome Ctr. & Columbia Univ., New York, NY, 5Icahn Sch. of Med. at Mount Sinai, New York, NY

Uncovering the brain-specific genetic regulation of splicing by mapping splicing quantitative trait loci in 10,887 post-mortem brain RNA-seq samples

Presentation or Session Status
Oral presentation
November 8, 2024
Authors
A. Real1, K. Babupanneerselvam2, B. Z. Muller2, W. H. Cuddleston2, J. Humphrey2, T. Raj2, D. Knowles3

1New York Genome Ctr., New York, NY, 2Icahn Sch. of Med. at Mount Sinai, New York, NY, 3New York Genome Ctr. & Columbia Univ., New York, NY

Identifying cell state-specific genetic effects on gene expression in human microglia

Presentation or Session Status
Poster presentation
November 7, 2024
Authors
B. Jang1, R. Kubler2, H-H. Won3, T. Raj2

1Icahn Sch. of Med. at Mount Sinai, New York City, NY,
2Icahn Sch. of Med. at Mount Sinai, New York, NY,
3Sungkyunkwan Univ, Seoul, Korea, Republic of

A novel stop gain SORL1 mutation in a Peruvian family with Alzheimer's Disease of the PeADI Study

Presentation or Session Status
Poster presentation
November 6, 2024
Authors
M. Cornejo-Olivas1,2, A. Griswold3, A. Saldarriaga-Mayo2,1, P. Mena3, R. S. Rodriguez1,2, L. Adams3, P. Whitehead3, R. Isasi3, M. Illanes-Manrique1,2, E. Sarapura-Castro1,2, F. Rajabli3, K. McInerney3, C. Manrique-Enciso2, G. Beecham3, S. Castro-Suarez4,5, P. St George-Hyslop6, I. Araujo-Aliaga1,2, M. L. Cuccaro3, J. Vance3, M. Pericak-Vance3

1Neurogenetics Working Group, Univ. Cientifica del Sur, Lima, Peru, 2Neurogenetics Res. Ctr., Inst. Natl. de Ciencias Neurologicas, Lima, Peru, 3 John P. Hussman Inst. for Human Genomics. Univ. of Miami Miller Sch. of Med., Miami, FL, 4CBI en Demencias y Enf. Desmielinizantes, Inst. Natl. de Ciencias Neurologicas, Lima, Peru, 5Global Brain Hlth.Inst., San Francisco, CA, 6Columbia Univ., New York, NY