Accurate detection and genotyping of SNPs utilizing population sequencing data

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Figure 3.
Figure 3.

SNP calling at the edge of a repetitive sequence. SNP rs10217269 is at the boundary of a repetitive sequence with 17 of the 36 36-mers covering the position aligning to multiple locations in the reference sequence. However, 19 36-mers align uniquely to this position (allowing for 0–1 mismatches) and hence can be used by SNIP-Seq to detect a SNP at this site.

This Article

  1. Published in Advance February 11, 2010, doi: 10.1101/gr.100040.109 Genome Res. 20: 537-545

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