| | 171 | |
| | 172 | Presentation of the new Genome Cell for i2b2 which uses the following pipeline: |
| | 173 | |
| | 174 | 1. VCF - variant cell format (variations from a reference genome) |
| | 175 | 1. [[http://www.openbioinformatics.org/annovar/|Annovar]] |
| | 176 | 1. GVF - Genome Variation Format |
| | 177 | 1. i2b2 |
| | 178 | * Observation (snp - no data) |
| | 179 | * use modifiers to record the snp information |
| | 180 | |
| | 181 | Uses the NCBO genome onthologies. |
| | 182 | |
| | 183 | One problem with recording VCF information is that annotations will change over time. This is because: |
| | 184 | |
| | 185 | * The reference human genome changes regularly (~once per year). |
| | 186 | * New knowledge changes the way the changes way genomes are annotated (could be much more frequent). |
| | 187 | |
| 181 | | === [=#SHRINE1 SHRINE National Pilot Lessons Learned] === |
| 182 | | === [=#SHRINE1 SHRINE Ontology Panel] === |
| 183 | | === [=#SHRINE1 University of California Research Exchange (UC ReX)] === |
| 184 | | === [=#SHRINE1 Preparation for Patient-Centred Research] === |
| 185 | | === [=#SHRINE1 Case Study: Improve Care Now] === |
| | 202 | === [=#SHRINE2 SHRINE National Pilot Lessons Learned] === |
| | 203 | === [=#SHRINE3 SHRINE Ontology Panel] === |
| | 204 | === [=#SHRINE4 University of California Research Exchange (UC ReX)] === |
| | 205 | === [=#SHRINE5 Preparation for Patient-Centred Research] === |
| | 206 | === [=#SHRINE6 Case Study: Improve Care Now] === |