Heaps of Chromosomes: New Scales and Evolving Paradigms in Genome Assembly
Abstract
The field of genomics has arrived at an inflection point in its history for its most fundamental resource: genome assemblies. Genome assembly is increasingly stream-lined and the results of increasingly outstanding quality,... [ view full abstract ]
The field of genomics has arrived at an inflection point in its history for its most fundamental resource: genome assemblies. Genome assembly is increasingly stream-lined and the results of increasingly outstanding quality, with chromosome-scale assemblies as the new standard. At Dovetail we aim to drive genome assemblies to full commoditization; focus on your science, not on the vagaries of sequencing technologies and analysis approaches. Come hear about the tool-kit and processes we have assembled and those we’re developing to increase focus on science over assembly as the focus of genomics for every organism.
Themes: Have all the data/tools needed to easily and consistently churn out many high-quality genome assemblies. Beginning to open the door to assembly based instead of reference based analysis paradigms. Hi-C for assembly, but also great utility for understanding genomic nuclear architecture, 2 for 1.
Future developments:
• Commodity genomes: we’ll put ‘em together, annotate, and call variants so you get a ready to use resource. Focus on your science.
• We’re in a nice spot to design specific recipes and approaches to enable high throughput genome assembly and analysis at reasonable costs
• Looking also to make more and better use of the biological Hi-C signal in our data
• Working toward better handling and representation of polyploidy genomes.
• Phased genomes are in our future (assemblies will consist of all haplotypes).
• Metagenomic assembly another future target
Authors
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Brandon Rice
(Dovetail Genomics)
Topic Areas
Sequencing strategies and technology advancements using the various NGS platforms , De novo sequencing, re-sequencing, Human seq., RNA seq., metagenomics, etc.
Session
TT-3 » Assembly & Analysis (16:05 - Thursday, 18th May, La Fonda Ballroom)
Presentation Files
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