ADMET-AI, a Chemprop-RDKit graph neural network trained on 41 TDC datasets, has the best average leaderboard rank and scores one million molecules in 3.1 hours.

Bioinformatics · Jun 21, 2024Peer-reviewedBioinformatics✦ In-depth digest

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, Undiagnosed Diseases Network, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, , John A. Capra

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.

Human Genetics and Genomics Advances · Jul 18, 2022Peer-reviewedGenetic & Genomic Medicine

Identifying digenic disease genes using machine learning in the undiagnosed diseases network

Souhrid Mukherjee, Joy D. Cogan, John H. Newman, John A Phillips, Rizwan Hamid, Undiagnosed Diseases Network, Jens Meiler, John A. Capra

This paper introduces DiGePred, a machine learning tool that identifies potential digenic disease gene pairs, achieving high precision and recall in evaluating rare genetic disorders.

The American Journal of Human Genetics · Sep 15, 2021Peer-reviewedBioinformatics