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Questions related from Sébastien Küry
I found a mutation in an alternative transcript of a human gene, which is not the main transcript – it is associated with a CDS, though. Correct me if I'm wrong, but usually RNA expression...
05 November 2013 10,055 6 View
Each time I write an article, I have to struggle with the problem of the illustrations. I can often see pretty nice figures in articles, more especially in reviews, which makes me think that my...
03 June 2013 3,625 20 View
We have recently observed that a transmitted hypermethylation of a gene was correlated to a single nucleotide variant in the proximal promoter region, and thereby to a decreased expression of the...
19 March 2013 6,974 11 View
I have been working for several years on a rare inherited disease due to a defective intestinal zinc transporter. In order to better understand the impact of mutations on the protein structure and...
13 February 2013 1,691 12 View
Genetics research looks more and more like an arms race. About two years ago, the first identification of a disease-causing gene by exome sequencing was published; it was based on a very limited...
10 November 2012 6,436 9 View
I'm looking for an alternative to hybridization assays of northern blots. I used this technique before, but it's outdated now. I assume that there are plenty of ways to examine the expression of a...
08 November 2012 3,319 5 View
I'm looking for tools working under windows environment with java that could be used as atlernatives to vcftools or even GATK.
18 October 2012 5,090 3 View
SNP array? SNP array + low coverage genome sequencing? CNVs?
12 October 2012 9,568 15 View
I'm looking for a cost-effective means for validation of potential associations in a GWAS as an alternative to individual genotyping, at least in a first time.
06 October 2012 5,764 2 View