The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.

Nature · May 10, 2023Peer-reviewedGenomics

FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome

Hufeng Zhou, Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore, Abhijith Asok, Sushant Kumar, Elizabeth Blue, Steven G. Buyske, Nancy Jean Cox, Adam L. Felsenfeld, Mark Gerstein, Eimear E. Kenny, Bingshan Li, , Xihong Lin

FAVOR provides an online resource and tool for functional annotation of variants from whole genome sequencing studies to aid in disease gene prioritization.

Nucleic Acids Research · Oct 14, 2022Peer-reviewedGenetics

Ultra-Fast Homomorphic Encryption Models enable Secure Outsourcing of Genotype Imputation

Miran Kim, Arif O. Harmanci, Jean-Philippe Bossuat, Sergiu Carpov, Jung Hee Cheon, Ilaria Chillotti, Wonhee Cho, David Froelicher, Nicolas Gama, Mariya Georgieva, Seungwan Hong, Jean‐Pierre Hubaux, Duhyeong Kim, Kristin Lauter, Yiping Ma, , Xiaoqian Jiang

This paper develops secure genotype imputation methods using homomorphic encryption, showing comparable accuracy and efficiency to non-secure methods while protecting genetic data privacy.

Cell Systems · Aug 30, 2021Peer-reviewedBioinformatics