Systematic analysis of insertions signature in gnomAD revealed large set of novel processed pseudogenes
Artem Podvalnyi, Varvara V. Kucherenko, Natalia Doroschuk, Elizaveta V. Sarygina, Olesya V. Sagaydak, Olga N. Mityaeva, Viktor P. Bogdanov, Julia Krupinova, Mary V. Woroncow, Pavel Volchkov, Eugene Albert
The paper identifies novel non-reference processed pseudogenes by analyzing insertion artifacts in gnomAD data, improving variant interpretation.
bioRxiv · Jan 15, 2026 · PreprintGenomics