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Showing 1–4 of 4 results
Advanced filters: Author: Likhitha Surapaneni Clear advanced filters

  • Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

    • Glennis A. Logsdon
    • Peter Ebert
    • Tobias Marschall
    ResearchOpen Access
    Nature
    Volume: 644, P: 430-441

  • 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

  • Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

    • Wolfram Höps
    • Tobias Rausch
    • Fritz J. Sedlazeck
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15