Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...
M. Singh, S. Stenton, E. Groopman et al.· medRxiv· 0 citations
Many individuals with rare monogenic disease remain molecularly undiagnosed due to challenges accessing genetic testing, ambiguity in interpretation of uncertain variants, and latency between novel disease-gene discovery and adoption into clinical pipelines. The Rare Genomes Project (RGP) provides a remote, research-ba...
A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al.· medRxiv· 0 citations
This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.
Z. Kowalzyk, J. Porrmann, P. Au et al.· Journal of Human Genetics· 0 citations
Using patient-derived iPSCs and multi-omics profiling, it is demonstrated that early-truncating variants cause loss-of-function via nonsense-mediated decay (NMD), while late-truncating variants that escape NMD cause gain-of-function effects.
Aileen A. Nava, Yunier Pérez-Rodríguez, T.-C. Hsieh et al.· medRxiv· 0 citations
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