Better understanding genetic changes in human diseases
Computational methods to interpret genomic variation and integrate functional genomics data in genetic analysis of human diseases
['FUNDING_OTHER'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-11093344
This project creates advanced computer tools to help us better understand the genetic causes of human diseases, including cancers.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11093344 on ClinicalTrials.gov |
What this research studies
Our team is building new computer programs that use machine learning to sort through vast amounts of genetic information. These programs help us find specific genetic changes that might be causing diseases, especially when current methods aren't clear. By improving how we interpret these genetic variations, we hope to make it easier to identify disease-causing genes. This work is crucial for improving diagnoses and understanding the role of rare genetic differences that contribute to conditions like cancer.
Who could benefit from this research
Good fit: Patients with suspected or diagnosed genetic diseases, including various cancers, whose conditions involve complex genetic variations, could ultimately benefit from the improved diagnostic tools developed.
Not a fit: Patients without genetic diseases or those whose conditions are not linked to genetic variations would not directly benefit from this specific computational method development.
Why it matters
Potential benefit: If successful, this work could lead to more accurate and faster diagnoses for genetic diseases and help identify new genes involved in conditions like cancer.
How similar studies have performed: While existing genetic sequencing efforts have identified some risk genes and improved diagnoses, many genetic questions remain unanswered, highlighting the need for these advanced computational tools.
Where this research is happening
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SHEN, YUFENG — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: SHEN, YUFENG
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Cancers