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Author

C. Grochowski

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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. · 2 citations
Jul 2026

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (LCRs) and other repetitive elements, and genomic variations found in 11 families included simple copy number gains, highe...

Christopher M. Grochowski, Shruti A. Pande, Parneet Kaur et al. · 0 citations

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