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Nature Communications|October 3, 2024
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with heightGareth Hawkes, Robin N Beaumont, Zilin Li, et al.Nature Genetics|December 23, 2022
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studiesXihao Li, Corbin Quick, Hufeng Zhou, et al.Nature Communications|December 9, 2022
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed programMarsha M Wheeler, Adrienne M Stilp, Shuquan Rao, et al.Proceedings of the National Academy of Sciences of the United States of America|December 28, 2017
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigreesGoo Jun, Alisa Manning, Marcio Almeida, et al.Biorxiv : the Preprint Server for Biology|November 14, 2023
A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studiesXihao Li, Han Chen, Margaret Sunitha Selvaraj, et al.Human Molecular Genetics|September 23, 2021
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiativeAmarise Little, Yao Hu, Quan Sun, et al.Medrxiv : the Preprint Server for Health Sciences|August 30, 2023
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular riskMarios K Georgakis, Rainer Malik, Omar El Bounkari, et al.Nature Genetics|August 26, 2020
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scaleXihao Li, Zilin Li, Hufeng Zhou, et al.Circulation. Genomic and Precision Medicine|November 28, 2023
Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical AtherosclerosisNatalie R Hasbani, Kenneth E Westerman, Soo Heon Kwak, et al.Genome Medicine|March 22, 2025
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular riskMarios K Georgakis, Rainer Malik, Omar El Bounkari, et al.Pageof 39