Alex Kotlar

POISE infers parent-of-origin effects in unlabeled genomic data using spectral decomposition and bootstrap confidence intervals, identifying 134 new variants in lipid metabolism and immune regulation from UK Biobank data.

The paper identifies OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletions and shows they impair synapse development and function in human neurons.

Bystro provides rapid online variant annotation and natural-language filtering for large whole-genome sequencing experiments, significantly speeding up processing time.