Question: Percentage Of Successful Next Generation Sequencing Projects ?
gravatar for Pierre Lindenbaum
8.3 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum130k wrote:

I've been regularly asked to analyse a set of BAM/VCF related to some genetic diseases.

The studied phenotypes are now more and more complicated (e.g: multigenic, not a non-synonymous mutation, etc... ) and I've got the feeling that the good results are more scarce (depressing).

Is there a resource that would highlight the number of NGS projects vs the number of articles published ?

Thank you,


next-gen • 1.2k views
ADD COMMENTlink written 8.3 years ago by Pierre Lindenbaum130k

What do you even mean by successful? If a sequencing project gives a lab 10 candidate genes, that can be a huge success, whether it's published or not. Sure, it might take a decade to work out the details of which gene is causative, and another decade to develop treatments, but giving wet-lab folks a narrowly focused place to start can be invaluable.

ADD REPLYlink written 8.3 years ago by Chris Miller21k

Are you specifically asking about NGS projects aiming at detecting genomic variants related to some disease (basically GWAS-type)? I work on several (successful) projects that include NGS (genomics, transcriptomics, ...), so I think your question's title is misleading.

ADD REPLYlink written 8.3 years ago by Leonor Palmeira3.7k

If you could get data on library prep kits ordered or lanes sequenced and then compare that to papers published somehow, I think it would paint quite a disappointing picture...

Getting data on a widespread scale might be harder, but maybe for a single institution it would be possible.

As a colleague has been known to say "Science is hard."

ADD REPLYlink written 8.3 years ago by Madelaine Gogol5.2k
gravatar for Istvan Albert
8.3 years ago by
Istvan Albert ♦♦ 84k
University Park, USA
Istvan Albert ♦♦ 84k wrote:

A really good blog to follow on the mater is Mass Genomics it is quite eye-opening to see just hard it is to actually correlate genomic data with diseases.

On top of that a high percentage of even the 'best' studies may later turn out to be called into question. This post: sums it up like so: Next-gen Sequencing: Lots of Data, Not Many Findings

ADD COMMENTlink written 8.3 years ago by Istvan Albert ♦♦ 84k
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