Fig. 3

Pedigree and WES analysis strategy of SMA-discordant family. a The pedigree of the family. The man (layer II) married a woman (layer II) who came from the same village and they had two SMA affected children. The male (layer III) was diagnosed with type III SMA (gray) and the female was diagnosed with type I SMA (black). The female patient died at the age of 11. The parents and the two patients were sequenced by WES. And compound heterozygous mutations in TLL2 were identified on the male patient’s genome. b Variants filtering pipeline of the analysis. Sentieon (https://www.sentieon.com) and Strelka2 (https://github.com/Illumina/strelka) were used to call the variants of the four samples. And the variants that called by both tools were kept for the further analysis. The variants were analyzed with GEMINI (https://github.com/arq5x/gemini). N/M represents that N variants were identified on the male patient’s genome and M variants were identified on the female patient’s genome