Prediction of novel intronic SNP function?
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7.2 years ago

I did my PhD few years back. I sequenced the seven coding exons of XLF (one of DNA repair genes) in 94 genomic DNA samples and found 2 SNPs already published in SNPdb and two novel. I'm looking for someone who could doing the prediction task to look the potential functions of these SNPs and of course he will be a coauthor.

snp SNP alignment gene • 1.8k views
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Sorry, forget to mention that all the SNPs I found are intronic ones

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Do you know if this SNPs would potentially bring to splicing variants?

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Actually, I do not have much experience but I assume it potentially could

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"he"? Only men then?

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it was impersonal of course.

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7.2 years ago
lessismore ★ 1.4k

If they are located next to the Exon junctions (2nt next) they could bring to intron retention

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7.2 years ago

Thanks a lot lessismore for the suggestion. I think I should try to publish it as it is, Especially the gene resides on 2q35 where segmental duplication is a common occurrence.

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