Genomics Publication Classification Training Document A. Intended Goal We are conducting this analysis to better understand the latest trends in genomics research. The portal will guide you through multiple publication abstracts. You will be required to select the most relevant application category for each publication B. Registration Process Step 1 Register and create an account on : https://crowdlabel.indico.io/register Step 2 Fill out the following form: https://goo.gl/i39fHC Make sure to submit your registered Indico crowdlabel email id from Step 1 Step 3 - You will receive a confirmation email - Go to https://crowdlabel.indico.io/login?next=%2Fmanage to access your datasets - Click on “Label” to launch the labeling portal C. Layout Description 1. The left panel will display the t itle, abstract and link for one publication at a time. 2. Use the right panel to select the application category. 3. Press next or the enter key to move onto the next publication D. Classification Instructions 1. Read the Title and the Abstract of the article 2. Understand the general theme and the intended application of the article 3. Select only one application category on from the options. Please select the most relevant application 4. Only Reject when there are incomplete titles or abstracts displayed in the window. E. Application Descriptions Application Definition Gene Expression •Analysis of RNA transcripts SNP Genotyping •Analysis of single nucleotide polymorphisms (SNPs) and their association with health and disease states CNV Analysis •Analysis of copy number variations (CNVs), a form of structure variation where sections of DNA are repeated in large numbers DNA Sequencing •Determination of the sequential base pairs in the genome miRNA Analysis •Analysis of miRNA and other non-coding RNA, which function as regulators of gene expression (including all ncRNA) Rare Mutation Analysis •Analysis of mutations found in less than 5% of cells / DNA in a sample (as low as 0.01%) Cell-Free DNA •Analysis of DNA circulating freely in the (often maternal) bloodstream Seq. detection •Detection of specific nucleic acids in a sample (e.g., absence / presence of DNA from a viral particle, mouse genotyping) (Absence / Presence) Absolute Quantitation •Digital quantitation of the absolute (rather than relative) number of DNA particles present in a sample, without relying on predetermined standards; often used for NGS library preparation Methylation Analysis •Analysis of a specific epigenetic modification that adds a methyl group to DNA motifs (often CpG islands) Circulating Tumor Cells •Analysis of circulating tumor cells (CTCs), which are cells that have shed into the vasculature from a primary tumor and circulate in the blood stream Methodology •Development of a novel application or technology (tech. development) NGS sample preparation •Use of a technology as a sample preparation method for NGS