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. 2010 Mar 12;86(3):378–388. doi: 10.1016/j.ajhg.2010.01.030

Figure 2.

Figure 2

Summary of Variants Found by Next-Generation Sequencing

Values in regular font are variants supported by at least three nonduplicate forward and reverse 454 reads or at least five unidirectional reads with a quality score greater then 20 (or 30 if the difference involved a pentamer or larger). Values in bold are restricted to those variants supported by at least 85% of the reads mapped at that location. Abbreviations are as follows: UTR, untranslated region; STR, short tandem repeat; SNP, single-nucleotide polymorphism.

a False positives demonstrated by Sanger sequencing.