The last academic year went by like a flash. The fall was all about 2 students finishing up and defending. That is always bittersweet. Seonggyun and Amber are on to the next stage of their careers. The spring and summer we have been writing papers and going to meetings.
We were really excited to finally see the hard work of Amber Kiser in the lab go into print. This work is an important contribution to women’s health and has spurred collaboration to validate the work with other labs. Kiser AC, Schliep KC, Hernandez EJ, Peterson CM, Yandell M, Eilbeck K. An artificial intelligence approach for investigating multifactorial pain-related features of endometriosis. PLoS One. 2024 Feb 21;19(2):e0297998. doi: 10.1371/journal.pone.0297998. PMID: 38381710; PMCID: PMC10881015.
Communication the meaning behind clinical practice guidelines has been the driving force behind this work in interoperability led by Robert Lario. Lario R, Soley R, White S, Butler J, Del Fiol G, Eilbeck K, Huff S, Kawamoto K. The Business Process Management for Healthcare (BPM+ Health) Consortium: motivation, methodology, and deliverables for enabling clinical knowledge interoperability (CKI). J Am Med Inform Assoc. 2024 Apr 3;31(4):797-808. doi: 10.1093/jamia/ocad242. PMID: 38237123; PMCID: PMC10990521.
This paper marks a productive collaboration towards a consistent model for clinical genetic interpretation. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. Genet Med. 2024 Feb;26(2):101029. Doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. PMID: 37982373; PMCID: PMC11039201.
Students
MD PhD student Katya Vinokuroff spent 6 weeks with us diving into an analysis of pediatric sepsis using Bayesian networks, ontologies and more.
Seonggyun Han defended his PhD thesis late fall 2023 and won the Ken Jacobs Memorial PhD thesis award.
Amber Kiser also defended her PhD late fall and joined Dr. Corrine Welt’s group for her postdoc switching her focus from endometriosis to PCOS.
Evan Christensen continues to work with the GA4GH, leading a discussion at a recent Connect meeting in Switzerland.
Three students in the group, (Lourdes, Evan and Courtney) represented the U in Heidelberg this summer at the IPHIE masterclass.
Conferences
Amber Kiser presented at AIME Predicting Ovarian Cancer Risk in Women with Endometriosis Using an Explainable Machine Learning Approach
Lourdes Valdez will present at the AMIA symposium this fall.
Service
Study section: I participated in the biomedical Knowledgebase and Data Repository special emphasis panel again, but have now switched gears and have become a permanent member of the NIGMS TWD-D panel.
Data Science: I have worked on the steering committee and the Community and research working group for the Delphi initiative again this year. We are hosting monthly seminars and will hold a symposium in October
Funding
We were funded by the Margolis Foundation to build a prototype chatbot for the communication of NBS results. We also hope to be able to share 2 other projects shortly.