600 Base Reads on the Ion S5™ Next-Generation Sequencing System Enables Accurate HLA Typing of 96 Samples on One 530™ Chip
Poster Feb 09, 2016
Peter B. Vander Horn, Cisilya Duncan, Jamsheed Ghadiri, Amneet Gulati, Diana Jeon, April Jung, Mindy Landes, Tommie Lincecum, Geoffrey Lowman, Vadim Mozhayskiy, Linus Ong, Xinzhan Peng, Maryam Shenasa, Prasanna Thwar
Longer read lengths simplify genome assembly, haplotyping, metagenomics, and the design of library primers for targeted resequencing. Several new technologies were developed to enable the sequencing of templates with inserts over 600 bases: a fast isothermal templating technology, an ISP™ that is optimized for maximum template density, a new long-read sequencing polymerase, and instrument scripts that consume less reagents. We demonstrate the combination of these technologies to sequence 600 base long DNAs on an Ion 530 Chip™ with an average AQ20 mean read length over 500 bp. The protocol was used to type human leukocyte antigen (HLA) alleles, a haplotyping application that is greatly simplified by long read length sequence data. 96 HLA samples were typed with 99.7% concordance to truth on one Ion 530 chip.
Complete “Sample-to-Result” Highly Automated NGS and qPCR Workflow for Clinical DiagnosticsPoster
Complete “Sample-to-Result” Highly Automated NGS and qPCR Workflow for Clinical Diagnostics.READ MORE
Inhibition of The Auto-inflammation Suppressor Protein ISG15 Triggers Preeclampsia by Blocking Trophoblast Migration and InvasionPoster
In summary, ISG15 expression levels are crucial for trophoblast morphology and function (migration/invasion). By blocking trophoblast invasion, reduced ISG15 levels could contribute to impaired spiral artery transformation that reduces utero-placental blood flow in preeclampsia. Thus, agents inducing ISG15 expression are likely to be therapeutic in preeclampsia.
An Emerging Phenotype of Partial RAG 1/2 Deficiency Among Young Children with Autoimmunity and Viral InfectionsPoster
We describe the natural history of a cohort of 12 patients with confirmed partial RAG1/2 mutations and autoimmunity at a young age. We were seeking the link between viral infections and autoimmunity and tested candidate biomarkers that may reflect the underlying RAG1/2 protein deficiency.READ MORE