[ged] Journal Club tomorrow

Jason Pell jason.pell at gmail.com
Mon Mar 26 09:53:27 PDT 2012


Hi everyone,

Tomorrow Alexis will be presenting for journal club at 11am in 2228.
See you there!

Jason

On Tue, Mar 20, 2012 at 12:25 PM, Alexis Black Pyrkosz <ablackpz at msu.edu> wrote:
> Greetings,
>
> Next Tuesday (March 27) I will be presenting the following paper for journal
> club.
>
> Alexis
>
> http://www.ncbi.nlm.nih.gov/pubmed/22231483
>
> De novo assembly and genotyping of variants using colored de Bruijn graphs
>
> Zamin Iqbal, Mario Caccamo, Isaac Turner, Paul Flicek, & Gil McVean
>
> ?Detecting genetic variants that are highly divergent from a reference
> sequence remains a major challenge in genome sequencing. We introduce de
> novo assembly algorithms using colored de Bruijn graphs for detecting and
> genotyping simple and complex genetic variants in an individual or
> population. We provide an efficient software implementation, Cortex, the
> first de novo assembler capable of assembling multiple eukaryotic genomes
> simultaneously. Four applications of Cortex are presented. First, we detect
> and validate both simple and complex structural variations in a
> high-coverage human genome. Second, we identify more than 3 Mb of sequence
> absent from the human reference genome, in pooled low-coverage population
> sequence data from the 1000 Genomes Project. Third, we show how population
> information from ten chimpanzees enables accurate variant calls without a
> reference sequence. Last, we estimate classical human leukocyte antigen
> (HLA) genotypes at HLA-B, the most variable gene in the human genome.
>
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