Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–5 of 5 results
Advanced filters: Author: Rachel Gonzaga Clear advanced filters

  • Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

    • Andrey Ziyatdinov
    • Jason Torres
    • Roberto Tapia-Conyer
    ResearchOpen Access
    Nature
    Volume: 622, P: 784-793

  • The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

    • Moez Dawood
    • Ben Heavner
    • Gabrielle C. Villard
    Reviews
    Nature
    Volume: 647, P: 331-342

  • In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

    • Angelica Maria Delgado-Vega
    • Helene Cederroth
    • Ann Nordgren
    Comments & Opinion
    Nature Genetics
    Volume: 56, P: 2287-2294

  • Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.

    • Joe Dennis
    • Jonathan P. Tyrer
    • Douglas F. Easton
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-15