LOHA Comprehensive Assay for Single Nucleotide Polymorphism, Copy Number Variants and Loss of Heterozygosity Using SureSelect Target Enrichment
Poster Apr 09, 2015
Kyeong Soo Jeong, Arjun Vadapalli, Ashutosh Ashutosh, Paula Costa, Brian Peter, Stephanie Fulmer-Smentek, Magnus Isaksson, Jayati Ghosh, Douglas Roberts, Holly Hogrefe
Genetic variation in the mammalian genome spans a size extreme that includes cytogenetically recognizable elements and single-nucleotide polymorphisms. Copy number variations (CNVs) are an important intermediate size class of structural variations that involve unbalanced arrangements that increase or decrease the DNA content in mammalian genomes. CNVs are responsible for a continuous spectrum of phenotypic effects ranging from adaptive traits to embryonic lethality. The technology platforms available to identify CNVs include fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) and more recently next generation sequencing. More mature platforms such as FISH and aCGH suffer from low resolution of genomic regions. The rapid development of low cost short-read sequencing technologies has paved the way to detect mutations and high resolution structural variation detection in a single experiment. Here we describe a comprehensive assay that enables researchers to identify SNP, INDEL, CNV, and LOH using SureSelect target enrichment. This design can be employed as a standalone entity or in concert with other bait designs for SNP and INDEL detection. We also describe methods for data analysis and visualization.
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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
Complete alignment identification of CRISPR-Cas9 genomic off-targets using Edit-R CRISPR specificity tool and a comprehensive analysis of positional mismatch tolerancePoster
A web tool that performs complete crRNA specificity checking is introduced. In addition, we evaluated positional off-targeting of the CRISPR system.READ MORE