Publications

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations Joseph Park, Anastasia M. Lucas, Xinyuan Zhang, Kumardeep Chaudhary, Judy H. Cho, Girish Nadkarni, Amanda Dobbyn, Geetha Chittoor, Navya S. Josyula,…

A C. elegans Zona Pellucida domain protein functions via its ZPc domain.  Jennifer D. Cohen, Jessica G. Bermudez, Matthew C. Good, Meera V. Sundaram.

Polygenic Scores for Height in Admixed Populations. Bárbara D. Bitarello and Iain Mathieson.

Massively parallel and time-resolved RNA sequencing in single cells with scNT-seq. Qi Qiu, Peng Hu, Xiaojie Qiu, Kiya W. Govek, Pablo G. Cámara & Hao Wu.

Alteration of genome folding via contact domain boundary insertion. Di Zhang, Peng Huang, Malini Sharma, Cheryl A. Keller, Belinda Giardine, Haoyue Zhang, Thomas G. Gilgenast, Jennifer E. Phillips-Cremins, Ross C. Hardison, Gerd A. Blobel.

Cohesin promotes stochastic domain intermingling to ensure proper regulation of boundary-proximal genes. Jennifer M. Luppino, Daniel S. Park, Son C. Nguyen, Yemin Lan, Zhuxuan Xu, Rebecca Yunker & Eric F. Joyce.

How Computational Experiments Can Improve Our Understanding of the Genetic Architecture of Common Human Diseases. Jason H. Moore, Randal S. Olson, Peter Schmitt, Yong Chen and Elisabetta Manduchi. 

Electronic health records and polygenic risk scores for predicting disease risk. Ruowang Li, Yong Chen, Marylyn D. Ritchie & Jason H. Moore.

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash & Elizabeth J. Bhoj.

Joint profiling of chromatin accessibility and CAR-T integration site analysis at population and single-cell levels. Wenliang Wang, Maria Fasolino, Benjamin Cattau, Naomi Goldman, Weimin Kong, Megan A. Frederick, Sam J. McCright, Karun Kiani, Joseph A. Fraietta, and Golnaz Vahedi. 

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