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Are you looking for a needle in a haystack? Well, GeneTalk might help you with filtering and annotating your sequence variants:
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If you click on the more button in the vcfViewer in GeneTalk you can see the HGVS code of the variant and are linked to the MutationTaster prediction:
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If you set the annotation filter, you will get all variants in your vcf file that have a GeneTalk User annotation or a scientific article linked to the specific mutationComment
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Hi,
we really had quite a high server load after these posts, so GeneTalk crashed several times over the last three days. However, now we scaled up the hardware (three servers in parallele) and all new users should be able to get their data filtered in a few seconds again,...Comment
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removing artefacts from variant list
In the 1000 genomes project more than 7 Mio variant calls were classified as probably false positives. These artefact positions are now marked by a lightning in GeneTalk (www.gene-talk.de) and can be filtered out.
In a usual exome we filter out between 1-2% of the variants based on this blacklist. Many of these artefacts don't have dbSNP IDs yet. Thus removing these artefacts might really speed up your NGS analysis!Comment
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Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.07-01-2026, 11:43 AM
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I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.
Here are nine questions we think about, in roughly the order they matter, before...
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