Fig. 1
From: MAC: identifying and correcting annotation for multi-nucleotide variations
Amino acid predictions for two neighboring SNVs scenarios. (A1) Two consecutive SNVs in gene TP53 codon 285. The fact the two SNVs are present on the same read suggests they are originated from the same chromosome. (A2) Incorrect annotation based on prediction of individual SNVs. The first and second SNVs were predicted to introduce E285V and E285Q, respectively. (A3) The correct amino acid change based on MNV is E285L. (B1) Two SNVs are located in gene OR6Y1 codon 252 but on different reads, suggesting they originated from separate chromosomes. (B2) The two SNVs in B1 were correctly predicted to introduce V252V and V252I based on individual SNVs. The sequencing reads are displayed in IGV viewer [14]