• A T-DNA mutant screen that combines high-throughput phenotyping with the efficient identification of mutated genes by targeted genome sequencing

    6 days ago - By Springer

    Abstract
    Background
    Nitrogen dioxide triggers hypersensitive response -like cell death in Arabidopsis thaliana. A high-throughput mutant screen was established to identify genes involved in this type of programmed cell death.
    Results
    Altogether 14,282 lines of SALK T-DNA insertion mutants were screened. Growing 1000 pooled mutant lines per tray and simultaneous NO 2 fumigation of 4 trays in parallel facilitated high-throughput screening. Candidate mutants were selected based on visible symptoms. Sensitive mutants showed lesions already after fumigation for 1 h with 10 ppm NO 2 whereas...
    Read more ...

     

  • Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

    6 days ago - By Springer

    Abstract
    Background
    Genomic structural variants can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.
    Methods
    We applied a combination of systematic experimental and bioinformatic methods to improve the molecular diagnosis of 39 patients with multiple congenital abnormalities and/or intellectual disability harboring apparent de novo SVs, most with an inconclusive diagnosis after regular genetic testing.
    Results
    In 7 of these cases , whole-genome sequencing analysis revealed...
    Read more ...