In the present study, whole exome sequencing (WES) was performed on a four-generation Chinese pedigree with bilateral non-syndromic polydactyly for identifying disease-causing mutation(s). A pathogeni
Additional file 12: Supplementary Table 6. scVAFRNA estimates. scVAFRNA estimates for positions covered by at least 10 total reads (minR = 10) in 20 and more cells per sample.
This is a pathogenic mutation profile of colorectal patients specifically in 5 genes, i.e. APC, TP53, PIK3CA, KRAS, and MLH1. Single nucleotide variants identified were synchronized with patients’ cha
Based on NEU1 cDNA sequence NM_000434.3. Numbers in brackets represent the p-value associated to the enrichment of SNVs in the corresponding exon calculated as described in Methods. Classification of
