Transcriptome-wide Association Study and eQTL colocalization identify potentially causal genes responsible for bone mineral density GWAS associations
Basel Maher Al-Barghouthi, Will T. Rosenow, Kangping Du, Jinho Heo, Robert D. Maynard, Larry D. Mesner, Gina M. Calabrese, Aaron Nakasone, Bhavya Senwar, Louis C. Gerstenfeld, James Mitchell Larner, Virginia L. Ferguson, Cheryl L. Ackert‐Bicknell, Elise Feng‐i Morgan, David L. Brautigan, Charles R. Farber
The paper identifies 512 potentially causal genes for bone mineral density using TWAS and eQTL colocalization, with PPP6R3 validated in mice.
eLife · Nov 17, 2022Peer-reviewedGenomics