| 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] === |