Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. - Kymberleigh A. Pagel; Danny Antaki; Aojie Lian; Matthew E. Mort; David N. Cooper; Jonathan Sebat; Lilia M. Iakoucheva; Sean D. Mooney; Predrag Radivojac (PLoS Comput. Biol., 2019)

Customized de novo mutation detection for any variant calling pipeline: SynthDNM. - Aojie Lian; James Guevara; Kun Xia; Jonathan Sebat (Bioinform., 2021)