Fig. 1
From: Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
Mendeliome reads show PDHX mutation. Reads from the patient’s genome show homozygous change from C to T (https://varbank.ccg.uni-koeln.de/). Above in black capital letters are the genomic reference sequence and the hg19 coordinates. Below is the next-generation sequencing read alignment, small and capital letters correspond to different sequencing directions. The mutation is labeled in red