Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Table 1 Results of whole-exome sequencing of three individuals with ARNSHL

Parameter	SR-903	SR-903B	SR-285
Total reads	66,179,458	74,672,946	65,182,498
Total yield (bp)	5,161,997,724	5,824,489,788	5,084,234,844
Mappable reads	61,470,184	68,485,482	60,376,538
Mappable yield (bp)	4,669,705,365	5,194,083,022	4,596,079,334
On-target reads	39,914,806	41,803,453	36,505,698
On-target yield (bp)	2,458,150,580	2,594,965,223	2,203,746,888
Coverage of target region (more than 10×)	91%	89%	91%
Mean read depth of targeted region	56×	59×	50×
Mean read depth of called variants	46×	50×	42×
Number of total variants	56,505	54,340	56,640
Number of coding variants	20,849	20,597	20,847
Number of missense, nonsense, splice, and indel variants	10,633	10,425	10,574
After Korean control exome* filtering	543	548	510
After dbSNP131 filtering	457	472	447
Variants in reported deafness genes	5	3	3
Shared variants	3	3	-

* Korean control exome dataset, which includes exome data for 30 Koreans from another study and the Korean genomes database, TIARA.

ISSN: 1471-2350