Equip yourself to tackle these common challenges with mtDNA analysis
Whole-exome sequencing (WES) is often the most suitable technique for identifying variants associated with diverse and overlapping phenotypes in rare diseases, including mitochondrial diseases. This is particularly true when combined with familial variant analysis (FVA) to determine inheritance patterns.
Complete the form to access our Application Note and learn more about mitochondrial genome analysis with the SOPHiA DDM™ Platform. This guide will provide you with valuable insights into how to tackle some of the most significant challenges, including:
• Differences in sequencing coverage between nuclear DNA (nDNA) and mitochondrial DNA (mtDNA)
• Confounding bias caused by nuclear mitochondrial DNA segments (NUMTs)
• Reduced sensitivity for low-frequency mtDNA variants
