P668: Assessing the utility of long-read genome sequencing in rare pediatric disorders
Developmental disorders exhibit high genetic heterogeneity, often with a constellation of non-specific syndromic features, posing major challenges for molecular diagnosis. While exome and genome sequencing efforts have improved diagnostic yield, more than half of individuals with rare disease and their families remain on diagnostic odysseys. The limitation of short-read technologies in assessing the full repertoire of disease variants, such as complex structural variants, likely contributes to the high negative result rate of genetic testing.
Authors
- Melissa Kelly (ORCID: https://orcid.org/0000-0003-4708-2261)
- Gabriel E. Rech (ORCID: https://orcid.org/0000-0002-7979-8654)
- Peter Robinson
- Adam Matson (ORCID: https://orcid.org/0000-0003-4080-0013)
- Mark D. Adams (ORCID: https://orcid.org/0000-0003-3161-7460)
- Peter A. Audano (ORCID: https://orcid.org/0000-0002-5187-0415)
- Purva Vats
- Cameron King
- Louisa Kalsner (ORCID: https://orcid.org/0000-0003-0484-2013)
- Michael Peracchio
- Elizabeth Charnysh (ORCID: https://orcid.org/0000-0003-2444-2009)
- Liz Werren
Institutions
- Connecticut Children's Medical Center (US)
- Jackson Laboratory (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103037
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00