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Showing 1–12 of 12 results
Advanced filters: Author: Rujin Chen Clear advanced filters

  • Here, the authors report an exome-wide association study for multi-organ imaging traits by leveraging recent bioinformatic tools such as AlphaMissense. The identified signals elucidate the genetic effects from rare variants on human organs and their connections to complex diseases

    • Yijun Fan
    • Jie Chen
    • Bingxin Zhao
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-21

  • Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.

    • Sahar Gelfman
    • Arden Moscati
    • Giovanni Coppola
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13

  • The authors identify novel NEGATIVE GRAVITROPIC RESPONSE OF ROOTS genes in Medicago and Arabidopsis. Mutants display a spectacular phenotype: gravity is still perceived, but the direction of growth is reversed: roots always grow upwards.

    • Liangfa Ge
    • Rujin Chen
    Research
    Nature Plants
    Volume: 2, P: 1-4

  • Genomic studies often lack representation from diverse populations, limiting equitable insights. Here, the authors show that the BIG Initiative captures extensive genetic diversity and reveals ancestry-linked health disparities in a community-based Mid-South cohort.

    • Silvia Buonaiuto
    • Franco Marsico
    • Vincenza Colonna
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12

  • A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

    • Kathie Y. Sun
    • Xiaodong Bai
    • Suganthi Balasubramanian
    ResearchOpen Access
    Nature
    Volume: 631, P: 583-592

  • An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.

    • Veera M. Rajagopal
    • Kyoko Watanabe
    • Giovanni Coppola
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1138-1148

  • Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

    • Andrey Ziyatdinov
    • Jason Torres
    • Roberto Tapia-Conyer
    ResearchOpen Access
    Nature
    Volume: 622, P: 784-793

  • Stroke is a multifactorial disease influenced by genetic and environmental factors. Here, the authors apply exome-wide association analysis to find rare coding variants associated with stroke in a Pakistani cohort, finding a significant association of a variant in NOTCH3 that is highly enriched in South Asians.

    • Juan Lorenzo Rodriguez-Flores
    • Shareef Khalid
    • Danish Saleheen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14