Author

D. Kalra

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Open access Oct 2026

Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.

Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark variant-calling strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep short- and long-read whole-genome sequencing data across five centers (170×-470× per center). We...

Y.-J. Ha, Dominika Maziec, J. Markowski et al. · Cell Genomics · 2 citations

Open access Sep 2026

Genotype-Phenotype Correlations Reveal Positive Inheritance and Phenotype Associations for PROM1-Associated Inherited Retinal Degenerations

Genetic variants in PROM1 are associated with inherited blindness, but clinical phenotypes vary widely with currently no consensus on disease expectations or predicted patient outcomes. To address this issue, we performed chi-square correlation analysis on 190 published pathogenic and likely pathogenic variants from Cl...

M. Shoukat, K. M. Papp, E. Misaghi et al. · medRxiv · 0 citations

Open access Jul 2026

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...

Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad et al. · HGG advances · 0 citations