Sergey Oreshkov

IVA uses a small language model to perform local genomic variant interpretation, achieving high sensitivity but lower precision in identifying pathogenic variants.

The paper identifies 792 genes associated with HIV load using transcriptomics and confirms TRABD2A as a viral restriction factor through Mendelian Randomization.

The paper reanalyzes mtDNA mutation data from human primordial germ cells, identifies NUMT contamination, and suggests that selection in PGCs may be positive rather than negative.

The paper identifies a contact zone in the human mitochondrial genome where deletions are more likely, linking it to aging and lifespan.

The paper finds that aneuploidy in human embryos is linked to higher mitochondrial DNA content and more ultra-rare mtDNA variants, independent of maternal age.

The paper re-analyzes mtDNA mutation data from primordial germ cells and finds that many variants are artifacts from nuclear mitochondrial DNA fragments, invalidating previous conclusions about purifying selection.