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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