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Forum: Bioinformatics 11-04-2014, 04:28 PM
Replies: 3
Views: 1,818
Posted By ddoopus
These are raw reads though, not validated SV...

These are raw reads though, not validated SV calls.
Forum: Bioinformatics 11-02-2014, 02:17 PM
Replies: 3
Views: 1,818
Posted By ddoopus
na12878 ground truth SVs

Hi,

Are there any available ground truth SV sets for the individual na12878 beyond what is presented in additional material of "Mapping copy number variation by population-scale genome sequencing"...
Forum: Bioinformatics 09-25-2014, 11:59 AM
Replies: 8
Views: 2,143
Posted By ddoopus
Ah, thanks for the clarification it is actually...

Ah, thanks for the clarification it is actually mentioned directly in their biorxiv paper but I overlooked it.

Thanks!
Forum: Bioinformatics 09-25-2014, 10:46 AM
Replies: 0
Views: 759
Posted By ddoopus
HuRef variants w.r.t. hg19

Hi,

I was wondering if there was a *vcf readily available which compares HuRef directly to hg19 instead of the hg18 as described in their paper and available on http://huref.jcvi.org/. I see...
Forum: Bioinformatics 09-24-2014, 09:47 PM
Replies: 8
Views: 2,143
Posted By ddoopus
I can't find Pacbio assembly of NA12878, do you...

I can't find Pacbio assembly of NA12878, do you know where this is
available?

From what I can tell, all of the genomes from PGP are sequenced with
Complete Genomics which I thought had a...
Forum: Bioinformatics 09-19-2014, 08:50 PM
Replies: 8
Views: 2,143
Posted By ddoopus
Available Personal Genomes

Hi,

We are resequencing segmental duplications of high sequence identity and there is very little overlap with dbSNP in these regions. Are there any personal genomes available other than Venter's...
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