Table 1 of Kondo, Mol Vis 2013; 19:384-389.

Table 1. Sequence variants in the two families found by whole-exome sequencing

Family A Family B
NextGENe MAQ NextGENe MAQ
Total variant calls 118,801 170,093 130,791 175,155
Unknown SNP variants (dbSNP132, 1000 Genomes project) 28,620 22,038 34,627 21,687
SNVs commonly found by two methods 3,269 2,347
NS+SP (indels)a 671 (100) 454 (135)
Present among 45
candidate genes 1 1
Confirmed segregation (heterozygous) 1 1

aSmall indels were detected only by NextGENe. SNP, single nucleotide polymorphism; SNV, single nucleotide variant; NS, non-synonymous variants; SP, canonical splice site variants; indels, small insertions or deletions.

Kondo, Mol Vis 2013; 19:384-389. http://www.molvis.org/molvis/v19/384

©2013 Molecular Vision http://www.molvis.org/molvis/

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