Author

V. Seplyarskiy

2 papers indexed here

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Sep 2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

The findings show that mutation rate heterogeneity systematically biases current variant effect prediction frameworks, highlight the need to model mutation probabilities explicitly in future VEPs, and reveal a genuine biological signal of mutational robustness.

Hossameldin Loay, Prathitha Kar, Evan Koch et al. · American Journal of Human Ge... · 0 citations

Open access Sep 2026

Extrachromosomal Circular DNA Function as Mobile Elements to Alter the Mammalian Germline Genome

The viability of any species including the human requires that the germline genome is kept stable as it is transmitted across generations by the germ cells. Failure to safeguard the genome integrity and stability would lead to inherited diseases and infertility. Thus, a better understanding of the mechanisms that alter...

Xin Zhang, Melanie Evans, S. Rajachandran et al. · bioRxiv · 0 citations