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Showing 1–20 of 20 results
Advanced filters: Author: Andrea Guarracino Clear advanced filters

  • Analysis of human Robertsonian chromosomes originating from 13, 14 and 21 reveal that they result from breaks at the SST1 macrosatellite DNA array and recombination between homologous sequences surrounding SST1.

    • Leonardo Gomes de Lima
    • Andrea Guarracino
    • Jennifer L. Gerton
    ResearchOpen Access
    Nature
    P: 1-10

  • The authors present a diploid reference-quality genome assembly of the widely used cell line RPE-1, revealing heightened variation between haplotypes and other human genomes at centromeres. The availability of a reference genome matching the cell line under study promises a new era of high-precision haplotype-resolved functional genomics.

    • Emilia Volpe
    • Alessio Colantoni
    • Simona Giunta
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-15

  • 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

  • We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.

    • Arang Rhie
    • Sergey Nurk
    • Adam M. Phillippy
    Research
    Nature
    Volume: 621, P: 344-354

  • Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons.

    • DongAhn Yoo
    • Arang Rhie
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 641, P: 401-418

  • 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

  • A phased pangenome of potato constructed from 60 wild and cultivated haplotypes shows that substantial hybridization occurred during domestication and enables identification of many putative deleterious variants, providing a basis for the design of improved inbred lines.

    • Lin Cheng
    • Nan Wang
    • Sanwen Huang
    ResearchOpen Access
    Nature
    Volume: 640, P: 408-417

  • PGGB is a modular framework for efficiently building unbiased pangenome graphs, supporting diverse downstream analyses.

    • Erik Garrison
    • Andrea Guarracino
    • Pjotr Prins
    Research
    Nature Methods
    Volume: 21, P: 2008-2012

  • Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

    • Andrea Guarracino
    • Silvia Buonaiuto
    • Erik Garrison
    ResearchOpen Access
    Nature
    Volume: 617, P: 335-343

  • An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

    • Wen-Wei Liao
    • Mobin Asri
    • Benedict Paten
    ResearchOpen Access
    Nature
    Volume: 617, P: 312-324

  • Type I interferons have been described to have protumor or antitumor functions depending on context. Here the authors show a protumor function for type I interferons in that they promote cancer stem cells by upregulating the chromatin remodeling factor KDM1B.

    • Martina Musella
    • Andrea Guarracino
    • Antonella Sistigu
    ResearchOpen Access
    Nature Immunology
    Volume: 23, P: 1379-1392

  • A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

    • Mitchell R. Vollger
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 617, P: 325-334

  • Ferrarini & Lal et al. developed a novel bioinformatic pipeline to explore how SARS-CoV-2 interacts with human respiratory cells using public available host gene expression and viral genome sequence data. Several human genes and proteins were predicted to play a role in the viral life cycle and the host response to SARS-CoV-2 infection.

    • Mariana G. Ferrarini
    • Avantika Lal
    • Vanessa Aguiar-Pulido
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-15