Author
Stanford MedicineORCID 0000-0002-7084-9646Unclaimed ORCID profile · follow to get notified of new preprints
8 papers
Recent·Most cited
Tiffany Y. Eulalio, Min Sun, Olivier Gevaert, Michael D. Greicius, Thomas Jude Montine, Daniel C. Nachun, Stephen B. Montgomery
The paper introduces regionalpcs, a method for summarizing DNA methylation patterns, showing improved sensitivity in detecting associations with Alzheimer's disease traits.
bioRxiv · May 1, 2024 · PreprintGenomics
Nicole A. Teran, Daniel C. Nachun, Tiffany Y. Eulalio, Nicole M. Ferraro, Craig Smail, Manuel A. Rivas, Stephen B. Montgomery
The paper assesses NMD efficiency for PTVs across tissues and individuals, finding high concordance and demonstrating in silico prediction using peripheral tissues.
The American Journal of Human Genetics · Jul 2, 2021Peer-reviewedGenomics
M. Ryan Corces, Anna Shcherbina, Soumya Kundu, Michael J. Gloudemans, Laure Frésard, Jeffrey M. Granja, Bryan H. Louie, Tiffany Y. Eulalio, Shadi Shams, S. Tansu Bagdatli, Maxwell R. Mumbach, Boxiang Liu, Kathleen S. Montine, William James Greenleaf, Anshul Bharat Kundaje, , Thomas Jude Montine
The paper uses single-cell epigenomic data to identify functional SNPs associated with Alzheimer's and Parkinson's disease, revealing novel gene-disease associations and regulatory mechanisms.
Nature Genetics · Oct 26, 2020Peer-reviewedGenomics
Stephane E. Castel, François Aguet, Pejman Mohammadi, Shankara K. Anand, Kristin Ardlie, Stacey Gabriel, Gad A. Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine H Huang, Seva Kashin, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, , Valentin Wucher
The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.
Genome biology · Sep 10, 2020Peer-reviewedGenomics
Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher, Stephane E. Castel, Andrew R. Hamel, Ana Viñuela, Amy L. Roberts, Serghei Mangul, Xiaoquan Wen, Gao T. Wang, Alvaro Barbeira, Diego Garrido-Martín, , Abhiram S. Rao
The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.
Science · Sep 10, 2020Peer-reviewedGenomics
Kathryn Demanelis, Farzana Jasmine, Lin Chen, Meytal Chernoff, Tong Lin, Dayana Delgado, Chenan Zhang, Justin Shinkle, Mekala Sabarinathan, Hannah Lin, Eduardo Ramirez, Meritxell Oliva, Sarah Kim-Hellmuth, Barbara E. Stranger, Tsung‐Po Lai, , Xiaoquan Wen
The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.
Science · Sep 10, 2020Peer-reviewedGenetics
Nicole M. Ferraro, Benjamin J. Strober, Jonah E. Einson, Nathan S. Abell, François Aguet, Alvaro Barbeira, Margot K. Brandt, Maja Bućan, Stephane E. Castel, Joe R. Davis, Emily Greenwald, Gaelen T. Hess, Austin T. Hilliard, Rachel L. Kember, Bence Kotis, , Andrew B. Nobel
Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.
Science · Sep 10, 2020Peer-reviewedGenomics
Lihua Jiang, Meng Wang, Shin Lin, Ruiqi Jian, Xiao Li, Joanne Chan, Guanlan Dong, Huaying Fang, Aaron Robinson, François Aguet, Shankara K. Anand, Kristin Ardlie, Stacey Gabriel, Gad A. Getz, Aaron Graubert, , Leslie H. Sobin
The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.
Cell · Sep 10, 2020Peer-reviewedSystems Biology