New NGS products

New products 2016 LinkX EAP Plans 2017

New NGS products 2016 NGSgo-AmpX Whole Gene DQB1 RUO GenDx-LongTaq Ion Torrent adapters 4x48 RUO

HLA-LinkX HLA Disease Associations with NGS Compatible with NGSgo workflow for HLA typing Reduce laboratory workload Cost effective B27 alleles strongly predispose for Ankylosing Spondylitis In ~90% of European patients

HLA-LinkX B DQB1 DQA1 Disease Ankylosing spondylitis Celiac disease Consensus typing Ankylosing spondylitis B27 Celiac disease DQ2.5 DQ8 DQ2.2 DQ7.5 Narcolepsy DQB1*06:02 Behcet’s disease HLA-B*51 HLA-B*52 Abacavir hypersensitivity HLA-B*57:01 1 4 3 2 7 6 5 0.9 kB 1.3 kB B DQA1 0.4 kB (Ex3) 0.6 kB (Ex2) DQB1 B27 alleles strongly predispose for Ankylosing Spondylitis In ~90% of European patients

In the upper left there’s a filter option for the gene of interest Please find here an impression of the prototype version of NGSengine that is currently under development for HLALinkX. In the upper left there’s a filter option for the gene of interest Samples analyzed are listed and results are marked positive, negative, or undecisive Quality scores and the level of confidence are given as well as the HLA groups assigned to the sample. In case of unclear results, additional information can be obtained by clicking on details. (KLIK) NGSgo-HLALinkX Prototype

The qualifier shows for instance: -Coverage measures (KLIK) This view allows further insight into the quality scores, including the acceptance criteria, the measured value and whether the acceptance criteria is met. The qualifier shows for instance: -Coverage measures (KLIK) -Heterozygocity index for balanced allele fraction and (KLIK) -the number of crucial positions passed These quality scores can help the user to decide whether a sample can be approved yes or no. NGSgo-HLALinkX Prototype

NGSgo®-HLALinkX Features NGS-based HLA disease association assay Single tube solution Compatible with NGSgo® HLA typing workflow Streamlined workload by combining HLALinkX and AmpX amplicons in a single run Comprehensive results with NGSengine Compatible with Illumina NGS Instruments Taken together, We developed a robust NGS-based HLA disease association assay that amplifies the essential regions of HLA-B, DQA1, and DQB1 in a single tube The NGSgo-HLALinkX assay is fully compatible with the standardized NGSgo® workflow for high resolution HLA typing Your laboratory workload can be streamlined by combining HLALinkX and AmpX amplicons in a single run. Comprehensive results are obtained with NGSengine NGSgo-HLALinkX assay is compatible with all Illumina NGS instruments NGSgo-HLALinkX Early Access Program

NGSgo®-HLALinkX EAP Goals: Q1: HLA-B27 Q4: B27, B*57:01, CD Feedback from potential customers Performance How many tests Pricing Q1: HLA-B27 Q4: B27, B*57:01, CD If your laboratory is performing disease association or pharmacogenetics tests and is using our NGSgo workflow on an Illumina Platform, you can be the first to use our upcoming NGSgo-HLALinkX. This will give you the opportunity to make suggestions that will suit your specific needs, for example additional loci or diseases to add to the workflow. Please contact us in case you are interested NGSgo-HLALinkX Early Access Program

Plans 2017

General goals Develop innovative products Partnering R&D Abstracts, publications

NGS Projects NGSgo workflow upgrade Automation bead merge Beckman, Hamilton, Tecan, Perkin Elmer IndX plates

NGS Projects Amplifications Whole gene Class II Whole gene HLA-G DRB1, DRB345, DPB1, DPA1 Whole gene HLA-G Other genes: KIR, MICA, MICB

NGS Projects HLA typing on Oxford Nanopore Chimerism / NGS

NGSengine New allele submitter Autostart analyse Database management Missing data Quality metrics Oxford Nanopore Technologies