Identifying Mendelian disease genes with the Variant Effect Scoring Tool

BMC Genomics

Table 4 Variant calling results.

Exome	SNV calls	cSNVs	InDel calls	Missense	Truncating	Mutated genes	Common mutated genes
Miller Syndrome 1	18256	14744	391	6569	98	4213	2258
Miller Syndrome 2	17403	14438	381	6409	113	4096	2258
Miller Syndrome 3	18367	14907	428	6575	106	4210	2258
Miller Syndrome 4	17074	14166	373	6377	111	4059	2258
Freeman Sheldon 1	19957	15383	567	6891	139	4310	2314
Freeman Sheldon 2	18929	14730	502	6618	123	4151	2314
Freeman Sheldon 3	15125	12361	371	5485	112	3675	2314

Summary of variant calling results for four Miller syndrome exomes and three Freeman Sheldon syndrome exomes.

ISSN: 1471-2164