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An ontology for transposable elements and other repetitive sequences in the age of genomics Kate L Hertweck (NESCent) Acknowledgements J. Chris Pires and lab (U of Missouri) NESCent Bioinformatics folks Find me: @k8hert [email protected]

iEvoBio Hertweck presentation 2012

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Page 1: iEvoBio Hertweck presentation 2012

An ontology for transposable elements and other repetitive sequences

in the age of genomicsKate L Hertweck (NESCent)

Acknowledgements

J. Chris Pires and lab (U of Missouri)NESCent Bioinformatics folks

Find me:

@[email protected]

Page 2: iEvoBio Hertweck presentation 2012

How can we effectively deal with repetitive elements?

Kate Hertweck, TE ontology

● Repetitive sequences comprise a large portion of many genomes

● Characterization of repeats lags behind research of genes

● Descriptive biology: what's in a genome?

● Comparative biology: how and why do genomes vary?

● Ontology: how do we organize our conceptual framework for repeats?

Class I: RetrotransposonsLTRLINESINEERVSVA

Class II: DNA transposonsTIRCryptonHelitronMaverick

OthersSatellitesSimple repeats

Page 3: iEvoBio Hertweck presentation 2012

What makes repeats different?

Kate Hertweck, Evolutionary effects of junk DNAKate Hertweck, TE ontology

● There are many classification schemes for repeats

● RepBase, lineage specific databases● Organization based on evolutionary relationships (Wicker et al 2007)

● Repeats are difficult!

● Breadth of knowledge growing, but many black boxes remain● Many copies throughout genome● Difficulty in identification and annotation

● Lots of metadata necessary

● Organism sequenced: taxonomy, voucher● Method of sequencing: next gen, sequence length, coverage● Assembly method: ab initio, de novo● Annotation approach: library, motif searching

Page 4: iEvoBio Hertweck presentation 2012

Formalizing structure

Kate Hertweck, Evolutionary effects of junk DNAKate Hertweck, TE ontology

● Developing the ability to summarize and compare repeat compliments from genomes of multiple organisms

● What is common between repetitive elements and genes/proteins/morphology?

● Does the age of a repeat matter? Fossils, inactivated, active but not inserting

● Relevant projects:

● Comparative Data Analysis Ontology (NESCent EvoInfo)● Homology Ontology (Robison-Rechavi Lab)

● Suggestions welcome!