Mapping the proteo-genomic convergence of human diseases
Science, 2021
Pietzner M., Wheeler E., Carrasco-Zanini J., Cortes A., Koprulu M., Wörheide M., Oerton E., Cook J., Stewart I., Kerrison N., Luan J., Raffler J., Arnold M., Arlt W., O’Rahilly S., Kastenmüller G., Gamazon E., Hingorani A., Scott R., Wareham N., Langenberg C.
| Disease area | Application area | Sample type | Products |
|---|---|---|---|
Wider Proteomics Studies | Pathophysiology | Plasma |  Olink Target 96 |
Abstract
Many diseases are at least partially due to genetic causes that are not always understood or targetable with specific treatments. To provide insight into the biology of various human diseases as well as potential leads for therapeutic development, Pietzner et al . undertook detailed, genome-wide proteogenomic mapping. The authors analyzed thousands of connections between potential disease-associated mutations, specific proteins, and medical conditions, thereby providing a detailed map for use by future researchers. They also supplied some examples in which they applied their approach to medical contexts as varied as connective tissue disorders, gallstones, and COVID-19 infections, sometimes even identifying single genes that play roles in multiple clinical scenarios. —YN