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Showing 1–9 of 9 results
Advanced filters: Author: Zev N. Kronenberg Clear advanced filters

  • Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

    • David Porubsky
    • Harriet Dashnow
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 643, P: 427-436

  • This work introduces a pedigree-derived benchmark for single-nucleotide variants, indels, structural variants and tandem repeats, offering a variant map to validate sequencing workflows or to support the development and evaluation of new variant callers.

    • Zev Kronenberg
    • Cillian Nolan
    • Michael A. Eberle
    Research
    Nature Methods
    Volume: 22, P: 1669-1676

  • Methods to produce haplotype-resolved genome assemblies often rely on access to family trios. The authors present FALCON-Phase, a tool that combines ultra-long range Hi-C chromatin interaction data with a long read de novo assembly to extend haplotype phasing to the contig or scaffold level.

    • Zev N. Kronenberg
    • Arang Rhie
    • Sarah B. Kingan
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10

  • The Vertebrate Genome Project has used an optimized pipeline to generate high-quality genome assemblies for sixteen species (representing all major vertebrate classes), which have led to new biological insights.

    • Arang Rhie
    • Shane A. McCarthy
    • Erich D. Jarvis
    ResearchOpen Access
    Nature
    Volume: 592, P: 737-746

  • Recurrent sporadic mutations are important risk factors for autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, Eichler, Xia and colleagues analyse risk genes in a large Chinese ASD cohort and find novel recurrences of potential pathogenic significance.

    • Tianyun Wang
    • Hui Guo
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-10

  • Taurine and indicine cattle have different desirable traits making them better adapted to different climates across the world. Here, Low et al. describe a pipeline to produce haplotype-resolved, chromosome-level genomes of Angus and Brahman cattle breeds from a crossbred individual and report on comparisons of the two genomes.

    • Wai Yee Low
    • Rick Tearle
    • John L. Williams
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14