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I have the variant information in form of the chromosomal position and allele change. I wish to translate it into the relevant amino acid change (if it is a nonsysn change). I do know how to do it but it seems like there must be something out there. Don't want to reinvent the wheel. Any suggestionss
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Try SnpEff: http://snpeff.sourceforge.net/ -
There are programs like SNPEff and Annovar, and ensembl's Variant effect predictor, which will take genomic coordinates, and output differences with respect to genes and amino acids.Originally posted by akitrav View Post
If you wanted to do a bit more yourself, you could used blastx to compare your DNA sequences to all potential proteins in the organism, and parse the blast output.Comment
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Thank you folks but I was trying to do it from scratch or just use a functionality that does only that. Maybe if there were an R package or something like that?Comment
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Data variability is still an issue in sequencing technologies despite the advances in reproducibility and accuracy of these platforms. But the problem does not originate in the sequencing itself, but in the previous steps, before the sample reaches the sequencer.
The first step is collection, followed by preservation and sample preparation for analysis. Most scientists overlook those steps, but not being careful might just be skewing the experiment’s results.
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With the launch of new single-cell sequencing platforms in 2026, the field stands at an exciting inflection point. This article surveys the most impactful advances in the field and discusses how they’re reshaping research in cancer, immunology, and beyond.
Introduction
Single-cell sequencing technologies have undergone remarkable advances over the past decade, transitioning from low-throughput experimental approaches to highly scalable platforms capable of...05-22-2026, 06:42 AM
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