We will’t look ahead to the annual Advances in Genome Biology and Know-how (AGBT) assembly, happening February 12-15 in Orlando! We’re excited to affix lots of of business leaders within the sunshine to change concepts in regards to the newest advances in DNA sequencing applied sciences, new approaches to leveraging multi-omic datasets, and their widespread functions in healthcare.
Should you’re headed to AGBT, be part of us for espresso (or a cocktail!) and dialogue on how the DNAnexus crew can work with you to combine multi-omic knowledge into your analysis, discovery, and improvement pipeline. E-mail us to schedule a gathering.
Tuesday, February 13th 9:00pm-11:00pm
Hilton Suite #1865
Cease by our suite Tuesday evening through the Passport Celebration to have fun novel scientific developments at DNAnexus from deep studying functions to leveraging multi-omic knowledge in analysis and improvement.
Poster #117: Dot: A New Interactive Dot Plot Viewer for Comparative Genomics
Presenter: Maria, Nattestad, PhD, Scientific Visualization Lead
Presentation Time: Tuesday, February 13th, 1:00pm-2:30pm
Evaluating genome assemblies to genomes of associated species is essential to understanding variations between organisms throughout the tree of life. Dot plots are wonderful instruments to visualise genome-genome alignments, nonetheless conventional dot plots are static pictures that restrict detailed investigation. We’re excited to current Dot, our interactive dot plot viewer that permits scientists to visualise genome-genome alignments with the intention to consider new assemblies and carry out exploratory comparative genomics.
Put uper #105: How Nicely Can We Section the Diploid Human Genome Utilizing FALCON-Unzip?
Presenter: Chai Fungtammasan, PhD, Scientist Presentation Time: Tuesday, February 13th, 1:00pm-2:30pm
Lengthy learn sequencing know-how has allowed researchers to create de novo assemblies with spectacular continuity, which has elevated the variety of reference genomes accessible. As a roadmap to private genome meeting and phasing, we assess the phasing accuracy of FALCON-Unzip in human utilizing trio info. We carried out a de novo meeting of the son within the Ashkenazi trio utilizing the info from Genome in a Bottle Consortium, concluding that the FALCON-Unzip algorithm can be utilized to create the lengthy and correct haplotype for human, and characterizes the underperformed space for future enchancment.
Poster: A CLIA NGS Visible Course of Monitoring for QC and Analytical Evaluations
Presenter: David Ross, CareDx
Visible knowledge analytics (VDA) are highly effective instruments to effectively develop, implement and monitor processes. VDA can quickly present deep analytic capabilities. We element how VDA instruments assist consider and monitor our clinical-grade NGS assay. This assay, AlloSure®, is for the detection of donor-derived cell-free DNA (dd-cfDNA) to measure transplanted organ harm. The next share of dd-cfDNA is indicative of energetic rejection of the allograft. The bioinformatic pipeline for the evaluation is uploaded from MiSeqs into DNAnexus after which consequence information are downloaded to native database methods for QC, consequence presentation to the CLIA lab and additional cross-functional evaluation. A lot of the cross-functional evaluation and knowledge exploration i achieved in Tableau. The Tableau workbooks facilitate evaluation of improvement QC, and assay standing. The circulation of data is speedy, visible and purpose-built for the consumer group and particular person.
Talks That includes the DNAnexus Platform
Joint Variant Calling on >200,000 Exome Sequences with GLnexus
Presenter: Mike Lin, PhD, VP Analysis & Growth, DNAnexus
Date/Time: Tuesday, February 13th, 7:30pm-7:50pm
Monitor: Computational Biology
The huge human cohorts now being sequenced current growing alternatives for improved genetic variant discovery by leveraging info from an entire cohort to refine conclusions about every particular person. We think about the issue of joint calling, the place Genomic Variant Name Format (gVCF) knowledge, representing preliminary variant requires single samples, are evaluated collectively to generate a multi-sample venture VCF (pVCF). The pVCF supplies a matrix of refined and harmonized variant requires the entire cohort, knowledgeable by allele frequencies and error patterns noticed therein. In distinction to preliminary gVCF era, which is quickly parallelized throughout samples, joint calling into pVCF presents acute scale and illustration challenges for contemporary inhabitants sequencing tasks. That is finished utilizing our new system for joint calling on giant cohorts, referred to as GLnexus.
Structural Variation Throughout Human Populations and Households in >23,000 Entire-Genomes
Presenter: Will Salerno, PhD, Human Genome Sequencing Heart, Baylor Faculty of Medication
Date/Time: Tuesday, February 13th, 3:00pm-3:20pm
Monitor: Plenary Session
Whereas the affect of small variation in well-characterized genomic areas remains to be being realized, it’s clear that clinical-quality understanding of the total spectrum of genetic illness requires correct evaluation of enormous, advanced variants throughout all the genome for populations that span phenotypic area, together with gender and ethnicity. Such structural variants (SVs) pose particular challenges with respect to detection accuracy, validation, allele reconciliation and the price of these strategies. Right here we deal with these challenges and current the aggregation of a number of SV strategies utilized to whole-genome sequencing throughout a big human inhabitants and households.
dd-cfDNA, a Transplant Biomarker in Scientific Diagnostics – From Discovery to Scientific Follow
Presenter: Marica Grskovic, Affiliate Director, R&D, CareDx
Date/Time: Thursday, February 15th, 3:30pm-3:50pm
Monitor: Plenary Session