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Showing 1–11 of 11 results
Advanced filters: Author: Liron Ganel Clear advanced filters

  • 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

  • The Finnish population is enriched for genetic variants which are rare in other populations. Here, the authors find new genetic loci associated with 1391 circulating metabolites in 6136 Finnish men, demonstrating that metabolite genetic associations can help elucidate disease mechanisms.

    • Xianyong Yin
    • Lap Sum Chan
    • Michael Boehnke
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-14

  • 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

  • Ira Hall, Donald Conrad, the GTEx consortium and colleagues identify 23,602 high-confidence structural variants (SVs) and 24,884 cis expression quantitative trait loci (eQTLs) across 13 human tissues. They estimate that SVs are the causal variant at 3.5–6.8% of eQTLs and identify 789 SVs predicted to directly alter gene expression, most of which are noncoding variants in regulatory elements.

    • Colby Chiang
    • Alexandra J Scott
    • Ira M Hall
    Research
    Nature Genetics
    Volume: 49, P: 692-699

  • 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

  • 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

  • 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

  • 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