Converting single nucleotide variants between genome builds: from cautionary tale to solution.

Abstract excerpt

Next-generation sequencing studies are dependent on a high-quality reference genome for single nucleotide variant (SNV) calling. Although the two most recent builds of the human genome are widely used, position information is typically not directly comparable between them. Re-alignment gives the most accurate position information, but this procedure is often computationally expensive, and therefore, tools such as...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Algorithms
• Share to Gene Conversion
• Share to Genome, Human