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Showing 1–2 of 2 results
Advanced filters: Author: Cillian Nolan Clear advanced filters

  • 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

  • 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