Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome
Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani · 2024
Read Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome by Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10854004.txt.
Description
Raymond Isidro and co-authors build a platform to judge whether an uncertain genetic variant actually causes Lynch syndrome, a family cancer condition. Variants of unknown significance in the DNA mismatch repair genes leave clinicians unsure how to manage patients. No tool combined what the tumor genome shows with the inherited data in one place.
Their platform, INT2GRATE, pairs a decision tree built on published evidence with a web interface. The tree weighs clinical and genomic evidence from both tumor and blood to judge each variant's relevance, and the interface collects that evidence and shares results into the public ClinVar database. Tested on data from 5,057 cancer patients, including fifty-two known Lynch syndrome controls, the tree correctly classified every fully documented positive case. It also flagged twenty-nine controls as missing or unusual in their evidence, showing a deliberately conservative streak. The work appeared in 2023.
Catalog record
| CREATOR | Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 55 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |