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Showing 1–4 of 4 results
Advanced filters: Author: Joshua D. Tibbetts Clear advanced filters

  • A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

    • Siwei Chen
    • Laurent C. Francioli
    • Konrad J. Karczewski
    Research
    Nature
    Volume: 625, P: 92-100

  • Spirocyclic tetrahydronaphthyridines (THNs) are valuable structural motifs in medicinal chemistry, but the modular and scalable synthesis of this specific motif remains challenging. Here, the authors develop an automated and continuous flow synthesis of 1,8-THN and 1,6-THN analogues based on photoredox-catalysed hydroaminoalkylation, demonstrating the concise synthesis of the spirocyclic THN core of Pfizer’s MC4R antagonist PF-07258669.

    • Qiao Cao
    • Joshua D. Tibbetts
    • Alexander J. Cresswell
    ResearchOpen Access
    Communications Chemistry
    Volume: 6, P: 1-7

  • A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

    • Michael H. Guo
    • Laurent C. Francioli
    • Kaitlin E. Samocha
    Research
    Nature Genetics
    Volume: 56, P: 152-161