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Table 4 Variant calling results.

From: Identifying Mendelian disease genes with the Variant Effect Scoring Tool

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