CpGPT is a foundation model for DNA methylation analysis that outperforms specialized models in aging-related tasks and can impute methylation profiles across diverse conditions.

bioRxiv · Oct 24, 2024 · PreprintSystems Biology

Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

Richard Oppong, Antonio Terracciano, Martin A. Picard, Yong Qian, Thomas J Butler, Toshiko Tanaka, Ann Zenobia Moore, Eleanor Marie Simonsick, Krista Opsahl-Ong, Christopher E. Coletta, Angelina R. Sutin, Myriam Gorospe, Susan M. Resnick, Francesco Cucca, Sonja W. Scholz, , Jun Ding

This study finds that blood mitochondrial DNA copy number is consistently associated with personality traits and mediates the link between personality and mortality in two genetic cohorts.

eLife · Nov 7, 2022Peer-reviewedGenetic & Genomic Medicine

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

William John Young, Najim Lahrouchi, Aaron J. Isaacs, ThuyVy Duong, Luisa Foco, Farah Ahmed, Jennifer A. Brody, Reem Salman, Raymond Noordam, Jan Walter Benjamins, Jeffrey Haessler, Leo‐Pekka Lyytikäinen, L. Repetto, Maria Pina Concas, Marten E. van den Berg, , Antônio Luiz Pinho Ribeiro

Nature Communications · Sep 1, 2022Peer-reviewedGenetic & Genomic Medicine

Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

Chunyu Liu, Jessica L. Fetterman, Yong Qian, Xianbang Sun, Kaiyu Yan, Thomas Blackwell, Achilleas Pitsillides, Brian E. Cade, Heming Wang, Laura M. Raffield, Leslie A. Lange, Pramod Anugu, Gonçalo Abecasis, L. Adrienne Cupples, Susan S Redline, , Daniel A Levy

The paper examines the concordance and characteristics of mitochondrial heteroplasmic mutations in maternal pairs of European and African ancestry, finding higher concordance in close relatives and associations with age and nuclear genome regions.

Mitochondrion · Jul 21, 2021Peer-reviewedGenetics