Sébastien Küry

9 Questions 46 Answers 0 Followers

Questions related from Sébastien Küry

How can I get the specific RNA expression of an alternative transcript of a gene of interest?

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 10,060 6 View

What tools do you use for illustrating your articles?

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 3,629 20 View

How can an alteration of the promoter sequence of a gene induce an epimutation?

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 6,979 11 View

What does it take to get the crystallography of a protein?

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 1,696 12 View

Is current genetic research only a matter of technology and money?

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 6,440 9 View

What would you use to explore the tissue distribution of an unknown gene?

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 I used this technique before, but it's outdated now.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 3,326 5 View

Do you know any user-friendly tools for parsing and/or handling variant call files?

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 5,094 3 View

If you had to conduct a GWAS today, what strategy would you follow?

SNP array? SNP array + low coverage genome sequencing? CNVs?

12 October 2012 9,572 15 View

Does anyone have any experience in determining allele frequency in pooled DNA by targeted high-throughput sequencing?

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 5,766 2 View