Illumina Genotyping Sample Submission We expect that your samples will be supplied in the correct containers and at the required concentration and quality (requirements are stated below). Timely completion of your project depends on you following these guidelines. This document provides guidelines as to how to submit samples for all Illumina genotyping projects. DNA Submission Guidelines Beadchip Portfolio Minimum Volume Volume Allowance Total Concentration Required for for Volume Of DNA for Assay Picogreen pipetting ( µl) sample (µl) Infinium Methylation Assay 50ng/µl 10 - 20 2 3 15 - 25 50ng/µl 4 2 3 10 50ng/µl 4 2 3 10 50ng/µl 4 2 3 10 50ng/µl 4 2 3 10 50ng/µl 15 2 3 21 HumanMethylation450KBeadChip Infinium HD Ultra Assay HumanCytoSNP-12 BeadChip Human Cardio-Metabochip HumanOmniExpress BeadChip Infinium HD Super Assay Human Omni1Quad Infinium LCG Human Omni2.5-8 Human Omni5-quad Infinium Multi-Sample Assay Custom iSelect BeadChip and Infinium focused content Infinium Multi-Use Assay (e.g. 2.5M, 2.5M S, 5M) 1 Version 1.2 October 2013 DNA Quality for Infinium Assay: Sample DNA should be at a minimum concentration of 50 ng/µl in TE solution (10mM Tris, 1mM EDTA) or water. Sufficient sample DNA should be provided to allow for additional testing requirements such as accurate quantification using Picogreen assay and spectrophotometer readings using a Nanodrop. The 260/280 ratio from a UV spectrophotometer reading should be 1.65-2.1. If the samples do not meet the minimum requirements, we reserve the right to refrain from processing them further unless an agreement is made to continue despite our recommendation for providing samples for replacement. A charge for QC checks for suboptimal sample identification will incur. DNA Quality for Golden Gate Assay: Sample DNA should be at a minimum concentration of 50 ng/µl in TE solution (10mM Tris, 1mM EDTA) or water. Sufficient sample DNA should be provided to allow for additional testing requirements such as accurate quantification using Picogreen assay and spectrophotometer readings using a Nanodrop. The 260/280 ratio from a UV spectrophotometer reading should be 1.65-2.1. We require a total volume of 10µl of DNA for all Golden Gate applications. If the samples do not meet the minimum requirements, we reserve the right to refrain from processing them further unless an agreement is made to continue despite our recommendation for providing samples for replacement. A charge for QC checks for suboptimal sample identification will incur. DNA Quality for Methylation Assay: Sample DNA should be at a minimum concentration of 50 ng/µl in TE or water (10mM Tris,1mM EDTA) solution. We require a total volume of 16µl (at 50 ng/µl) of DNA for all Methylation applications. Sufficient sample DNA should be provided to allow for additional testing requirements such as accurate quantification using Picogreen assay and spectrophotometer readings using a Nanodrop. The 260/280 ratio from a UV spectrophotometer reading should be 1.65-2.1. If the samples do not meet the minimum requirements, we reserve the right to refrain from processing them further unless an agreement is made to continue despite our recommendation for providing samples for replacement. A charge for QC checks for suboptimal sample identification will incur. 2 Version 1.2 October 2013 Plating: Do not use a flat-bottom plate for the DNA. Plate DNA into a 96 well 0.2µl skirted plate (Thermofisher, ABgene, ref AB-800) in columns (A1, B1, … etc), and seal plate using adhesive seals (ABgene or foil seals, capable of withstanding different temperatures ensuring each well is properly sealed). Completion of the sample record sheet: Plate Label: Plate ID, make sure that manifest name matches what is written on the actual plate Well: Note that the DNA well locations are shown as in columns. Sample Label: Unique sample ID Sex : depending on whether you have the information Volume : in µl Concentration: minimum concentration should be 50ng/µl in TE (10mM Tris,1mM EDTA) solution or water. Family ID: if applicable Paternal ID: sample ID of the case study's father, if applicable Maternal ID: sample ID of case study's mother, if applicable Replicates: if included please label -rep1, -rep2,…) Dispatching samples: Please contact Christine Blancher (project manager) or the person responsible for your project prior to shipping your samples, or provide a courier tracking ID. Ship DNA plate with plenty of dry ice between Monday to Wednesday and ensure from couriers the samples will reach the destination on a working day before the weekend. Please ensure the plates can withstand dry ice temperatures, and the plates are cushioned and well sealed, preferably using a dry ice temperature resistant adhesive sealant. Please ensure all plates are clearly labeled, we reserve the rights to process plates should they arrive cracked, at room temperature, with punctured plate seals or if see seals not adhered, indicating contamination. Further queries can be addressed by emailing: christin@well.ox.ac.uk or genomicsinfo@well.ox.ac.uk 3 Version 1.2 October 2013 Shipping address: FAO: Dr Christine Blancher Wellcome Trust Centre For Human Genetics, University of Oxford, Department of High-Throughput Genomics, Roosevelt Drive, Headington Oxford, OX3 7BN UK 4 Version 1.2 October 2013