What standard instructions apply for the provision of resequencing service?
Investigator The investigator should be prepared to: • Confirm the list of candidate genes and/or genomic regions to be targeted (as approved by the NHLBI). • Provide data to the assigned resequencing center about any gene or region the investigator knows to be potentially difficult to amplify or sequence (e.g., duplicated regions). • Confirm the approved level of sequence coverage for each gene or region (i.e., standard or full), and/or whether custom resequencing was approved. • Discuss the logistics of the resequencing project and the investigator’s expectations for project output data files and formats. If providing samples, the investigator should be prepared to: • Normalize the concentration and volume of all of the samples as directed by the resequencing center. (Concentration and volume of samples will be determined based on the size of the project.) • Present plans for performing whole genome amplification of primary DNA samples if sufficient genomic DNA is not available (120
