Originally posted by sdvie
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A common approach is to annotate your results with the information from dbSNP, 1000 Genomes, Exome Variant Server .
These databases have information on previously described SNPs and their frequency in several populations.
You can download these databases and annotate your vcf files with them using snpSift annotate.
cheers,
SophiaLeave a comment:
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mutation detection but has to exclude known polymorphism?
Recently got a project on human data. It is easy to find out all the mutations. But how do I exclude all the know Polymorphisms, any approach? Thanks!
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CRISPR/Cas9 sparked the gene editing revolution for both research and therapeutics.1 But this system still showed severe issues that limited its applications. The most prominent were the heavy reliance on PAM sequences, delivery limitations, double-stranded breaks that prompt unintended edits and cell death, and editing inefficiency (both in targeting and in knock-in reliability).
Despite this, “CRISPR helped turn genome editing from a specialized technique into...07-31-2026, 11:01 AM -
Proteomics platforms are evolving rapidly, with advances in mass spectrometry and affinity-based approaches expanding what researchers can detect and at what scale. As the field moves toward deeper proteome coverage and clinical applications, scientists face an increasingly complex landscape of tools. This article will explore how researchers are navigating these choices to find the right platform for their work.
The systematic characterization of the human proteome has...07-20-2026, 11:48 AM
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