Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references

European Journal of Human Genetics · Published 2026-05-14 · DOI 10.1038/s41431-026-02125-7

Free full text

Authors (6)

Chiara Folland, Gavin Monahan, James Breen, Mridul Johari, Hardip R. Patel, Gianina Ravenscroft

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year

2026

Citation

Folland, C., Monahan, G., Breen, J., et al. (2026). Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02125-7

Related articles

• Beyond the sequence · European Journal of Human Genetics · 2026 · Cites or is cited by this article · Same journal
• Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study · European Journal of Human Genetics · 2026 · Same journal
• The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information · European Journal of Human Genetics · 2026 · Same journal
• A thick opt-out for genomic newborn screening, retention, and reuse of genomic data · European Journal of Human Genetics · 2026 · Same journal
• When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants · European Journal of Human Genetics · 2026 · Same journal
• PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery · European Journal of Human Genetics · 2026 · Same journal
• A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada · European Journal of Human Genetics · 2026 · Same journal
• Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools · European Journal of Human Genetics · 2026 · Same journal
• Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project · European Journal of Human Genetics · 2026 · Same journal
• Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics · European Journal of Human Genetics · 2026 · Same journal