Skip to main content

Table 2 Filtering of exome sequence data to identify the mutation in Isl1

From: Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice

Processing steps Number of DNA changes
Different from the C57BL/6J reference sequence (C3H/Drsh) 7261538/7242100
C3H not same as Drsh 5022723
Not in dBSNP and 17 wildtype strains 3654870
Samtools quality filter 76264
Mapping quality > 45 and read depth > 10 7980
Remove intronic and intergenic variants 1260
Select stop, nonsynonymous and splice site SNVs 23
Confirm with capillary sequencing 1