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Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

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  1. Article

    Open Access

    Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

    Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K. Dey in Nature Genetics (2022)

  2. Article

    Open Access

    SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

    Several biobanks, including UK Biobank (UKBB), are generating large-scale sequencing data. An existing method, SAIGE-GENE, performs well when testing variants with minor allele frequency (MAF) ≤ 1%, but inflat...

    Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K. Dey in Nature Genetics (2022)

  3. Article

    Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

    Genome-wide association studies provide a powerful means of identifying loci and genes contributing to disease, but in many cases, the related cell types/states through which genes confer disease risk remain u...

    Karthik A. Jagadeesh, Kushal K. Dey, Daniel T. Montoro, Rahul Mohan in Nature Genetics (2022)