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Hi, Can anyone suggest on tools/packages to detect SNPs? I have Illumina data and used bowtie for the alignment. For each detected SNP I would like to have the following fields for homozygous and heterozygous SNPs: actual number of reads for each base in my sample, the reference base and whether such a SNP exists in dbSNP and HapMap. Thank you!
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There's a lot of software to do that kind of analysis. We have develop a pipeline that covers most of your needs. You can take a look at:
We do not work in human, so we haven't added the HapMap part. -
Thanks! I will try it.Comment
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If you find any problem don't hesitate to contact us.Comment
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Thanks a lot!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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