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Showing 1–3 of 3 results
Advanced filters: Author: Katarina Cisarova Clear advanced filters

  • Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex model of inheritance.

    • Konstantinos Nikopoulos
    • Katarina Cisarova
    • Carlo Rivolta
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-7

  • Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.

    • Mathieu Quinodoz
    • Virginie G. Peter
    • Carlo Rivolta
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-7

  • Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis pigmentosa.

    • Koji M. Nishiguchi
    • Fuyuki Miya
    • Toru Nakazawa
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-12