Program Spotlight: New Human Genome Sciences PhD Track

The new Human Genome Sciences track in the Biological & Biomedical Sciences (BBS) PhD program, open for applications this fall, is an interdisciplinary initiative at the intersection of human genomics, genetics, and informatics.

The track, launched as a collaboration between the Departments of Biomedical Informatics and Data Science (BIDS) and Genetics under the leadership of Lucila Ohno-Machado, MD, MBA, PhD, chair of biomedical informatics and data science, and Valerie Reinke, PhD, chair of genetics, benefits from exceptional contributions from BIDS faculty members. Ira Hall, PhD, professor of genetics, and Hoon Cho, PhD, assistant professor of biomedical informatics & data science and of computer science, serve as the inaugural directors of the track. Their work in cutting-edge research harnessing rapid advances in sequencing technologies and large-scale biological data directly enhances the track's curriculum and student training in research.

Haoyu Cheng, PhD, develops genome assembly algorithms like hifiasm that are used in major projects including the Human Pangenome Reference Consortium. His computational methodologies for genome assembly and variant calling provide human genome sciences students with extensive hands-on training in experimental and computational technologies for measuring genomic information at scale.

Hyunghoon Cho, PhD , director of graduate admissions for human genome sciences, creates privacy-preserving algorithms for sharing and utilizing sensitive biomedical data and scalable, integrative tools for large-scale genomic analysis. His research provides students with practical experience in designing novel computational methods that broaden the scientific insights that can be derived from genomic datasets.

Jihoon Kim, PhD , investigates how evolutionary forces shape human genetic variation using large-scale genomic datasets and statistical modeling. His population genetics research provides human genome sciences students with a strong foundation in human genome biology and its connections to disease prediction and diagnosis.

María Rodríguez Martínez, PhD, combines AI and mechanistic modeling to study immune dysregulation in cancer and autoimmune disorders, developing machine learning methods for genomic and immune receptor analysis. She trains human genome sciences students to harness advances in computational technologies to transform how we study and diagnose human diseases.

Sai Zhang, PhD, the newest faculty member in the Department of Biomedical Informatics and Data Science, develops AI and machine learning algorithms that integrate large-scale genetic, multiomic, and clinical data to decode complex human diseases and advance precision medicine. His research provides students with hands-on training in designing biology-inspired AI/ML models to translate big biomedical data into novel scientific insights and therapeutic strategies.

Together, faculty from both Yale School of Medicine departments ensure that students receive comprehensive training across the track's core research areas – spanning from fundamental genome biology and population genetics to cutting-edge computational techniques – preparing graduates for successful careers in academia, biotechnology, pharmaceuticals, and healthcare.